Allele Registry

Canonical Allele Identifier: PA2829417379

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189551

RCV000464908

RCV001808528

RCV002345681

ClinVar Variation:

207376

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Arg1844Trp	CA318780 NM_003127.4:c.5530C>T