Canonical Allele Identifier: PA1139740671
Gene: EPG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 855849
ClinVar RCV Id: RCV001061193
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066015.2:p.Cys1334Ser
CA299760495
NM_020964.3:c.4001G>C
CA402340298
NM_020964.3:c.4000T>A