Allele Registry

Canonical Allele Identifier: PA645374929

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000224859

RCV000807806

RCV001808583

ClinVar Variation:

235617

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Arg2472Cys	CA5266105 NM_001130438.3:c.7414C>T