ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111137
Gene: EXT2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997005.1:p.Cys85Arg
CA380179944
NM_207122.2:c.253T>C