Allele Registry

Canonical Allele Identifier: PA108763

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000013698

RCV003137514

ClinVar Variation:

12845

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Gln471Pro	CA122748 NM_003126.2:c.1412A>C