Allele Registry

Canonical Allele Identifier: PA122750

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000013699

RCV000251633

RCV000315888

RCV000986444

RCV001810857

RCV002496348

ClinVar Variation:

12846

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Ala970Asp	CA122749 NM_003126.2:c.2909C>A