ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499287413
Gene: EPG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066015.2:p.Val2098Phe
CA8948309
NM_020964.3:c.6292G>T