Allele Registry

Canonical Allele Identifier: PA916044201

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189533

RCV001542587

ClinVar Variation:

207359

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Asp2321Val	CA318747 NM_001363759.2:c.6962A>T