ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499232184
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1008762
ClinVar RCV Id:
RCV001306155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000392.3:p.Arg330His
CA5955026
NM_000401.3:c.989G>A