ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA342922
Gene: GLI3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000159.3:p.Gln716Ter
NM_000168.6:c.2146C>T