Allele Registry

Canonical Allele Identifier: PA2828113590

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000440777

RCV002522382

ClinVar Variation:

387660

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Arg2140Cys	CA5265709 NM_001363765.2:c.6418C>T