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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:
CA5045835
Gene: RMRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379208
ClinVar RCV Id:
RCV000423744
RCV000549969
RCV000666251
dbSNP Id:
rs753874439
ExAC:
9:35657869 C / T
gnomAD v2:
9-35657869-C-T
gnomAD v3:
9-35657872-C-T
gnomAD v4:
9-35657872-C-T
MyVariant Identifiers:
chr9:g.35657869C>T (hg19)
chr9:g.35657872C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.35657872C>T , CM000671.2:g.35657872C>T
GRCh38
NC_000009.11:g.35657869C>T , CM000671.1:g.35657869C>T
GRCh37
NC_000009.10:g.35647869C>T
NCBI36
NG_017041.1:g.5147G>A , LRG_163:g.5147G>A
NG_033120.1:g.4583C>T
Transcript Alleles
HGVS
Amino-acid change
NR_003051.3:n.147G>A , LRG_163t1:n.147G>A
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