Allele Registry

Canonical Allele Identifier: PA2828112905

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189453

RCV001852506

ClinVar Variation:

207282

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Trp1172Arg	CA318601 NM_001363765.2:c.3514T>C CA375062659 NM_001363765.2:c.3514T>A