ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102799
Gene: EXT1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000118.2:p.Gly339Asp
NM_000127.3:c.1016G>A