ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829183019
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1503386
ClinVar RCV Id:
RCV002022795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376557.1:p.Ser332Asn
CA221467996
NM_001389628.1:c.995G>A