Allele Registry

Canonical Allele Identifier: PA645475086

Gene: EFEMP2 HGNC NCBI

ClinVar RCV:

RCV000761780

RCV001000039

RCV002393037

RCV003401432

RCV003902611

ClinVar Variation:

390442

HGVS (amino-acid)	Matching Registered Transcripts
NP_058634.4:p.Pro47Ser	CA6110776 NM_016938.5:c.139C>T