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: PA2828375012

Gene: SLC52A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 929978

ClinVar RCV Id: RCV001195346 RCV001859176 RCV002561032

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357014.1:p.Met317Ile	CA310677077 NM_001370085.1:c.951G>A CA407962760 NM_001370085.1:c.951G>T CA407962761 NM_001370085.1:c.951G>C