ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499232185
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
998352
ClinVar RCV Id:
RCV001294174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000392.3:p.Arg358Trp
CA5955065
NM_000401.3:c.1072C>T