ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827608378
Gene: EDC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372218
ClinVar RCV Id:
RCV000412560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338307.1:p.Phe54Ser
CA16042246
NM_001351378.2:c.161T>C