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: PA2499239264

Gene: SLC12A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1005347

ClinVar RCV Id: RCV001302204

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001128243.1:p.Met1058Ile	CA9887782 NM_001134771.2:c.3174G>A CA409208323 NM_001134771.2:c.3174G>C CA409208325 NM_001134771.2:c.3174G>T