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: PA2573269465

Gene: SLC45A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1366403

ClinVar RCV Id: RCV001930117 RCV002482536

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_057264.4:p.Met265Leu	CA3225701 NM_016180.5:c.793A>T CA359393431 NM_016180.5:c.793A>C