ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830527221
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
878162
ClinVar RCV Id:
RCV001104528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997005.1:p.Gln313Glu
CA5955034
NM_207122.2:c.937C>G