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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:
PA2741811822
Gene: GLI3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2928795
ClinVar RCV Id:
RCV003789569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000159.3:p.Ser715Asn
CA4230673
NM_000168.6:c.2144G>A