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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:
PA1139698193
Gene: TNNT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
915787
ClinVar RCV Id:
RCV001171167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001263276.1:p.Ile90Met
CA344206596
NM_001276347.2:c.270C>G