Allele Registry

Canonical Allele Identifier: PA916044134

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000425545

RCV000727624

RCV001521448

RCV001808818

ClinVar Variation:

386867

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Gly1749Arg	CA5265407 NM_001363759.2:c.5245G>A CA375074626 NM_001363759.2:c.5245G>C