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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:
PA2825224629
Gene: TNNT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1302623
ClinVar RCV Id:
RCV001756297
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001001432.1:p.Leu118Val
CA344206203
NM_001001432.3:c.352C>G