Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2579795560

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1744446

ClinVar RCV Id: RCV002342824

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Ile166Leu	CA410601395 NM_000071.3:c.496A>C CA2579808532 NM_000071.3:c.496_498delinsCTT CA2579808533 NM_000071.3:c.496_498delinsTTG CA2579808534 NM_000071.3:c.496_498delinsCTG