Canonical Allele Identifier: PA1139740680
Gene: EPG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 840002
ClinVar RCV Id: RCV001041888
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066015.2:p.Gly1389Cys
CA8948968
NM_020964.3:c.4165G>T
CA916083647
NM_020964.3:c.4164_4165delinsAT