Allele Registry

Canonical Allele Identifier: PA645374592

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000413240

RCV001514611

RCV001808790

ClinVar Variation:

373461

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Arg1054His	CA5264866 NM_001130438.3:c.3161G>A