Allele Registry

Canonical Allele Identifier: PA2826204586

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189529

RCV001314638

RCV001808522

RCV002362991

ClinVar Variation:

207355

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182461.1:p.Arg2141Cys	CA318740 NM_001195532.2:c.6421C>T