Allele Registry

Canonical Allele Identifier: PA2828112411

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189432

RCV000463688

RCV001808478

ClinVar Variation:

207262

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Ala450Ser	CA318566 NM_001363765.2:c.1348G>T