Allele Registry

Canonical Allele Identifier: PA645417915

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000251930

RCV000268434

RCV000321216

RCV000354195

RCV001689840

ClinVar Variation:

258929

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Ser1163Ala	CA1183031 NM_003126.2:c.3487T>G