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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:
PA645411038
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
332777
ClinVar RCV Id:
RCV000263672
RCV000276395
RCV000299127
RCV000356101
RCV000368925
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Pro25328Leu
CA1989973
NM_001267550.2:c.75983C>T