Allele Registry

Canonical Allele Identifier: PA108702

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000013708

RCV000013709

RCV001508010

ClinVar Variation:

12854

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Arg28Ser	CA122757 NM_003126.2:c.82C>A