ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826138307
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
943666
ClinVar RCV Id:
RCV001213903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171554.1:p.Thr170Ile
CA5954902
NM_001178083.2:c.509C>T