ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830527254
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1966888
ClinVar RCV Id:
RCV002721624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997005.1:p.Leu335dup
CA2580084132
NM_207122.2:c.1002_1004dup