ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499254932
Gene: GLI2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001354197
RCV002547582
RCV004036701
ClinVar Variation:
1048857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361283.1:p.Thr47Asn
CA1851559
NM_001374354.1:c.140C>A