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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:
PA2830233541
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202760
ClinVar RCV Id:
RCV000184690
RCV002453678
RCV003147386
RCV003147387
RCV003147388
RCV003147389
RCV003147385
RCV003147384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Pro11896Gln
CA310200
NM_133437.4:c.35687C>A