Allele Registry

Canonical Allele Identifier: PA645418055

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000249864

RCV000306625

RCV000345998

RCV000394217

RCV001812721

ClinVar Variation:

258943

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Lys1693Gln	CA1182432 NM_003126.2:c.5077A>C