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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:
PA2830197222
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
808975
ClinVar RCV Id:
RCV000997435
RCV002481786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Pro17704Leu
CA1992443
NM_133378.4:c.53111C>T