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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:
PA2826554523
Gene: TNNT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2554458
ClinVar RCV Id:
RCV004328690
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001263274.1:p.Asp135Gly
CA088987
NM_001276345.2:c.404A>G