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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:
CA192745537
Gene: RMRP
HGNC
NCBI
Linked Data
dbSNP Id:
rs767056929
MyVariant Identifiers:
chr9:g.35657767_35657768insC (hg19)
chr9:g.35657770_35657771insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.35657774dup , CM000671.2:g.35657774dup
GRCh38
NC_000009.11:g.35657771dup , CM000671.1:g.35657771dup
GRCh37
NC_000009.10:g.35647771dup
NCBI36
NG_017041.1:g.5248dup , LRG_163:g.5248dup
NG_033120.1:g.4485dup
Transcript Alleles
HGVS
Amino-acid change
NR_003051.3:n.248dup , LRG_163t1:n.248dup
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