Canonical Allele Identifier: PA2573281798
Gene: EPG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1362288
ClinVar RCV Id: RCV001932213
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066015.2:p.Leu2554Ile
CA402335268
NM_020964.3:c.7660C>A