Allele Registry

Canonical Allele Identifier: PA645418049

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000244890

RCV000288918

RCV000325129

RCV000383306

RCV001668488

ClinVar Variation:

258942

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Cys1568Arg	CA1182595 NM_003126.2:c.4702T>C