Canonical Allele Identifier: PA2573281790
Gene: EPG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1390845
ClinVar RCV Id: RCV001889645
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066015.2:p.Asn2480Lys
CA402335771
NM_020964.3:c.7440C>G
CA402335772
NM_020964.3:c.7440C>A