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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:
PA645465512
Gene: IFT140
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318005
ClinVar RCV Id:
RCV000390334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055529.2:p.Gln1194Glu
CA7813109
NM_014714.4:c.3580C>G