Allele Registry

Canonical Allele Identifier: PA645418042

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000297861

RCV000361908

RCV000397160

RCV001507481

RCV004549640

ClinVar Variation:

292983

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Thr1522Ala	CA1182657 NM_003126.2:c.4564A>G