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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:
PA2829440762
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467581
ClinVar RCV Id:
RCV000552983
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003310.4:p.Ile19700Thr
CA349544893
NM_003319.4:c.59099T>C