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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:
PA2829439790
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2442822
ClinVar RCV Id:
RCV003150628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003310.4:p.Arg18111His
CA1989196
NM_003319.4:c.54332G>A