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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:
PA2829435956
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202763
ClinVar RCV Id:
RCV000559556
RCV000726175
RCV001798652
RCV002453680
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003310.4:p.Arg11771Gln
CA310209
NM_003319.4:c.35312G>A