ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580110100
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2191898
ClinVar RCV Id:
RCV002620839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000392.3:p.Arg182Gln
CA5954890
NM_000401.3:c.545G>A