Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2573201476

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1448081

ClinVar RCV Id: RCV002012057

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Met64Leu	CA410601362 NM_001321072.1:c.190A>T CA410601365 NM_001321072.1:c.190A>C CA2579805796 NM_001321072.1:c.190_192delinsTTA CA2579805797 NM_001321072.1:c.190_192delinsCTA CA2579805798 NM_001321072.1:c.190_192delinsCTT