Canonical Allele Identifier: PA1139740679
Gene: EPG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 948400
ClinVar RCV Id: RCV001219647
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066015.2:p.Ser1385Cys
CA8948974
NM_020964.3:c.4154C>G