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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:
PA2829436473
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1734810
ClinVar RCV Id:
RCV002363878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003310.4:p.Ser12596Gly
CA349435959
NM_003319.4:c.37786A>G