Allele Registry

Canonical Allele Identifier: PA645417702

Gene: SPTA1 HGNC NCBI

ClinVar Allele:

249461

ClinVar RCV:

RCV000249178

RCV000268090

RCV000323182

RCV000381211

RCV000756691

ClinVar Variation:

258918

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Tyr653Cys	CA1183560 NM_003126.2:c.1958A>G