Canonical Allele Identifier: PA2573281528
Gene: EPG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1496264
ClinVar RCV Id: RCV001991792

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066015.2:p.Ala783Val
CA402347262
NM_020964.3:c.2348C>T