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: PA1139757517

Gene: SLC13A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 960537

ClinVar RCV Id: RCV001234080 RCV001760242

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_808218.1:p.Phe324Leu	CA8331561 NM_177550.5:c.970T>C CA397744179 NM_177550.5:c.972C>G CA397744184 NM_177550.5:c.972C>A