Allele Registry

Canonical Allele Identifier: PA2826603274

Gene: SIGMAR1 HGNC NCBI

ClinVar RCV:

RCV000713286

RCV000988175

RCV001515376

RCV001579900

ClinVar Variation:

586584

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269134.1:p.Gln2Pro	CA5035965 NM_001282205.2:c.5A>C