Allele Registry

Canonical Allele Identifier: PA2829417663

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000415933

RCV001034128

RCV001808521

ClinVar Variation:

207352

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Arg2137Cys	CA318734 NM_003127.4:c.6409C>T