Allele Registry

Canonical Allele Identifier: PA318602

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189453

RCV001852506

ClinVar Variation:

207282

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Trp1192Arg	CA318601 NM_001130438.3:c.3574T>C CA375062659 NM_001130438.3:c.3574T>A