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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:
PA183902
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
179185
ClinVar RCV Id:
RCV000155971
RCV000461125
RCV001558815
RCV003991467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Arg8121Gln
CA183901
NM_133378.4:c.24362G>A