Allele Registry

Canonical Allele Identifier: PA2828112466

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000423266

RCV001861606

ClinVar Variation:

388456

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Ser517Thr	CA5264428 NM_001363765.2:c.1550G>C