Allele Registry

Canonical Allele Identifier: PA281919

Gene: EFEMP2 HGNC NCBI

ClinVar Allele:

47612

ClinVar RCV:

RCV000032266

RCV000033128

ClinVar Variation:

39009

HGVS (amino-acid)	Matching Registered Transcripts
NP_058634.4:p.Ala397Thr	CA281918 NM_016938.5:c.1189G>A