ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829183480
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1307214
ClinVar RCV Id:
RCV001760632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376559.1:p.Gly327Arg
CA221467994
NM_001389630.1:c.979G>C