ClinGen Allele Registry
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Canonical Allele Identifier:
PA916053658
Gene: EPG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
798245
ClinVar RCV Id:
RCV001418884
RCV003953381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066015.2:p.Asn768Ser
CA8949461
NM_020964.3:c.2303A>G