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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:
PA2826555262
Gene: TNNT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1504448
ClinVar RCV Id:
RCV002028797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001263276.1:p.Ser122Cys
CA344206209
NM_001276347.2:c.365C>G