Canonical Allele Identifier: PA2499287393
Gene: EPG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1030741
ClinVar RCV Id: RCV001332377
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066015.2:p.Leu1370Phe
CA402340054
NM_020964.3:c.4108C>T