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: PA096757

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 198988

ClinVar RCV Id: RCV000180461 RCV000200469 RCV001251422 RCV002228800

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Thr262Met	CA275440 NM_000071.3:c.785C>T