Allele Registry

Canonical Allele Identifier: PA645417913

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000293245

RCV000350472

RCV000389358

RCV001812777

ClinVar Variation:

292994

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Arg1133Pro	CA1183064 NM_003126.2:c.3398G>C