Allele Registry

Canonical Allele Identifier: PA2829417275

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000425545

RCV000727624

RCV001521448

RCV001808818

ClinVar Variation:

386867

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Gly1744Arg	CA5265407 NM_003127.4:c.5230G>A CA375074626 NM_003127.4:c.5230G>C