Canonical Allele Identifier: PA658805314
Gene: EPG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 534596
ClinVar RCV Id: RCV000642209 RCV003243228
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066015.2:p.Pro1388Leu
CA8948970
NM_020964.3:c.4163C>T