Allele Registry

Canonical Allele Identifier: PA318567

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189432

RCV000463688

RCV001808478

ClinVar Variation:

207262

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Ala450Ser	CA318566 NM_001130438.3:c.1348G>T