ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826138302
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2163621
ClinVar RCV Id:
RCV003073382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171554.1:p.Thr164Ile
CA5954897
NM_001178083.2:c.491C>T