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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:
PA2830212865
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500101
ClinVar RCV Id:
RCV000597559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Val4012Ala
CA349610583
NM_133432.3:c.12035T>C