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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:
PA2830242549
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228179
ClinVar RCV Id:
RCV000219152
RCV000245827
RCV000643650
RCV000725877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ile25654Thr
CA1985583
NM_133437.4:c.76961T>C