Allele Registry

Canonical Allele Identifier: PA645475143

Gene: EFEMP2 HGNC NCBI

ClinVar RCV:

RCV000788132

RCV001088860

RCV002446555

RCV003485576

ClinVar Variation:

305379

HGVS (amino-acid)	Matching Registered Transcripts
NP_058634.4:p.Thr312Ala	CA6110481 NM_016938.5:c.934A>G