Canonical Allele Identifier: PA2499287361
Gene: EPG5 HGNC NCBI
ClinVar RCV:
RCV001304027
ClinVar Variation:
1006910
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066015.2:p.Ala2543Thr
CA402335344
NM_020964.3:c.7627G>A