Allele Registry

Canonical Allele Identifier: PA2829417688

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189529

RCV001314638

RCV001808522

RCV002362991

ClinVar Variation:

207355

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Arg2161Cys	CA318740 NM_003127.4:c.6481C>T