ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252306
Gene: EXT2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_997005.1:p.Gln258Ter
NM_207122.2:c.772C>T