Allele Registry

Canonical Allele Identifier: PA2829417503

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189520

RCV001323491

RCV001808518

ClinVar Variation:

207346

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Lys2000Arg	CA318722 NM_003127.4:c.5999A>G