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: PA096743

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 188927

ClinVar RCV Id: RCV000169294 RCV000197988 RCV000790997 RCV000780084 RCV002228778 RCV003128393

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Thr257Met	CA274140 NM_000071.3:c.770C>T