Allele Registry

Canonical Allele Identifier: PA100563

Gene: EFEMP2 HGNC NCBI

ClinVar RCV:

RCV000005757

RCV000032275

ClinVar Variation:

5424

HGVS (amino-acid)	Matching Registered Transcripts
NP_058634.4:p.Arg279Cys	CA281559 NM_016938.5:c.835C>T