Allele Registry

Canonical Allele Identifier: PA100584

Gene: EFEMP2 HGNC NCBI

ClinVar RCV:

RCV000005756

RCV000032268

ClinVar Variation:

5423

HGVS (amino-acid)	Matching Registered Transcripts
NP_058634.4:p.Glu57Lys	CA281558 NM_016938.5:c.169G>A