ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499287394
Gene: EPG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1051679
ClinVar RCV Id:
RCV001359749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066015.2:p.Gly1379Val
CA8948977
NM_020964.3:c.4136G>T