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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:
PA2830215277
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195710
ClinVar RCV Id:
RCV002426847
RCV000725162
RCV001086306
RCV000213905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Arg8395His
CA302842
NM_133432.3:c.25184G>A