Allele Registry

Canonical Allele Identifier: PA108844

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000013716

RCV001810858

ClinVar Variation:

12858

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Lys48Arg	CA122761 NM_003126.2:c.143A>G