ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573169308
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_000392.3:p.Ser365Asn
CA221467996
NM_000401.3:c.1094G>A