Allele Registry

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.

Canonical Allele Identifier: PA916024774

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 127

ClinVar RCV Id: RCV000000150 RCV000179250 RCV000458159 RCV002227959 RCV002310622 RCV002265542 RCV004540986

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Val63Met	CA113895 NM_001321072.1:c.187G>A