ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499287364
Gene: EPG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1189712
ClinVar RCV Id:
RCV001550170
RCV002032579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066015.2:p.Arg2579Gln
CA8947929
NM_020964.3:c.7736G>A