Allele Registry

Canonical Allele Identifier: PA242182

Gene: SPTAN1 HGNC NCBI

ClinVar Allele:

192825

ClinVar RCV:

RCV000176280

RCV000678849

RCV001343594

RCV001808450

RCV003278676

ClinVar Variation:

195664

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Arg1045Trp	CA242181 NM_001130438.3:c.3133C>T