Allele Registry

Canonical Allele Identifier: PA915981631

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000176280

RCV000678849

RCV001343594

RCV001808450

RCV003278676

ClinVar Variation:

195664

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Arg1045Trp	CA242181 NM_003127.4:c.3133C>T