Allele Registry

Canonical Allele Identifier: PA645395436

Gene: EPG5 HGNC NCBI

ClinVar RCV:

RCV000490629

ClinVar Variation:

427731

HGVS (amino-acid)	Matching Registered Transcripts
NP_066015.2:p.Gly1336Glu	CA402340281 NM_020964.3:c.4007G>A