ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3085650312
Gene: EPG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066015.2:p.Ile1807Met
CA402344781
NM_020964.3:c.5421T>G