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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA257188
Gene: RMRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14227
ClinVar RCV Id:
RCV000015295
RCV003593859
dbSNP Id:
rs387906533
MyVariant Identifiers:
chr9:g.35657924_35657925delinsGC (hg19)
chr9:g.35657927_35657928delinsGC (hg38)
PubMed:
PMID:11370632
PMID:16252239
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.35657927_35657928delinsGC , CM000671.2:g.35657927_35657928delinsGC
GRCh38
NC_000009.11:g.35657924_35657925delinsGC , CM000671.1:g.35657924_35657925delinsGC
GRCh37
NC_000009.10:g.35647924_35647925delinsGC
NCBI36
NG_017041.1:g.5091_5092delinsGC , LRG_163:g.5091_5092delinsGC
NG_033120.1:g.4638_4639delinsGC
Transcript Alleles
HGVS
Amino-acid Change
NR_003051.3:n.91_92delinsGC , LRG_163t1:n.91_92delinsGC
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