Allele Registry

Canonical Allele Identifier: PA916044144

Gene: SPTAN1 HGNC NCBI

ClinVar Allele:

202412

ClinVar RCV:

RCV000189551

RCV000464908

RCV001808528

RCV002345681

ClinVar Variation:

207376

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Arg1849Trp	CA318780 NM_001363759.2:c.5545C>T