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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:
PA916064264
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
509725
ClinVar RCV Id:
RCV000613481
RCV003486892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Thr66Met
CA2006395
NM_133437.4:c.197C>T