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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:
PA2825222369
Gene: TNNT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
537259
ClinVar RCV Id:
RCV000646070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001001431.1:p.His91Leu
CA344206589
NM_001001431.3:c.272A>T