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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:
PA2830213797
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285627
ClinVar RCV Id:
RCV000338270
RCV000539417
RCV000725703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Arg5739Gln
CA1995765
NM_133432.3:c.17216G>A