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: PA916074837

Gene: SLC13A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 651382

ClinVar RCV Id: RCV000806730 RCV001561178

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_808218.1:p.Gly288Arg	CA8331580 NM_177550.5:c.862G>A CA287388259 NM_177550.5:c.862G>C