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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:
PA658813414
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497106
ClinVar RCV Id:
RCV000593381
RCV000678758
RCV001082337
RCV001662639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Thr9162Met
CA1999797
NM_001267550.2:c.27485C>T