Allele Registry

Canonical Allele Identifier: PA645418070

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000261580

RCV000319189

RCV000354150

RCV002261032

RCV004549639

ClinVar Variation:

292964

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Ala1929Gly	CA1182196 NM_003126.2:c.5786C>G