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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:
PA2830226592
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1930408
ClinVar RCV Id:
RCV002645743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Arg25898Lys
CA349411497
NM_133432.3:c.77693G>A