Allele Registry

Canonical Allele Identifier: PA645418111

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000248352

RCV000269117

RCV000313584

RCV000363626

RCV001696195

ClinVar Variation:

258957

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Ile2265Thr	CA1181833 NM_003126.2:c.6794T>C