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: PA2828111363

Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2630172

ClinVar RCV Id: RCV004550613

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Asn1839Lys	CA375076966 NM_001363759.2:c.5517C>G CA375076967 NM_001363759.2:c.5517C>A