Canonical Allele Identifier: PA891847764
Gene: EPG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 570618
ClinVar RCV Id: RCV000691520 RCV002544913
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066015.2:p.His1384Gln
CA8948975
NM_020964.3:c.4152C>G
CA402339907
NM_020964.3:c.4152C>A