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: PA2829615197

Gene: SLC25A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 858154

ClinVar RCV Id: RCV001063969

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005975.1:p.Asp311Glu	CA10097237 NM_005984.5:c.933C>G CA410633259 NM_005984.5:c.933C>A