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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:
PA2830199911
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405048
ClinVar RCV Id:
RCV000464905
RCV000597470
RCV002339120
RCV003330689
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Arg24060Pro
CA1989422
NM_133378.4:c.72179G>C