ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826138211
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1414506
ClinVar RCV Id:
RCV001930505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171554.1:p.Ile32Val
CA5954814
NM_001178083.2:c.94A>G