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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:
PA111569
Gene: IGF1R
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14793
ClinVar RCV Id:
RCV000015916
RCV003886361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000866.1:p.Arg739Gln
CA124314
NM_000875.5:c.2216G>A