Canonical Allele Identifier: PA2573281620
Gene: EPG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1418511
ClinVar RCV Id: RCV001940450

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066015.2:p.Arg1371Cys
CA8948981
NM_020964.3:c.4111C>T