Allele Registry

Canonical Allele Identifier: PA318723

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189520

RCV001323491

RCV001808518

ClinVar Variation:

207346

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Lys2005Arg	CA318722 NM_001130438.3:c.6014A>G