ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825160481
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
304575
ClinVar RCV Id:
RCV000328182
RCV001355388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000392.3:p.Asp115Ala
CA5954848
NM_000401.3:c.344A>C