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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:
PA2742022766
Gene: TTBK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2981204
ClinVar RCV Id:
RCV003832346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775771.3:p.Arg427His
CA7516920
NM_173500.4:c.1280G>A