ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139765713
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
850072
ClinVar RCV Id:
RCV001054162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997005.1:p.Arg80Gln
CA380179914
NM_207122.2:c.239G>A