Allele Registry

Canonical Allele Identifier: PA2828113596

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189529

RCV001314638

RCV001808522

RCV002362991

ClinVar Variation:

207355

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Arg2146Cys	CA318740 NM_001363765.2:c.6436C>T