Allele Registry

Canonical Allele Identifier: PA645418074

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000282656

RCV000336545

RCV000374793

RCV001507997

ClinVar Variation:

292959

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Asp1971Asn	CA1182137 NM_003126.2:c.5911G>A