ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573317277
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1414093
ClinVar RCV Id:
RCV001928523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997005.1:p.Thr89Met
CA5954854
NM_207122.2:c.266C>T