Allele Registry

Canonical Allele Identifier: PA318704

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189510

RCV000636442

RCV001808515

ClinVar Variation:

207336

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Arg1437His	CA318703 NM_001130438.3:c.4310G>A