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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580105143
Gene: GLI3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2074240
ClinVar RCV Id:
RCV002976113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000159.3:p.Thr319Met
CA4231012
NM_000168.6:c.956C>T