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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:
PA343183
Gene: TINF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38921
ClinVar RCV Id:
RCV000032172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092744.1:p.Pro283His
CA343182
NM_001099274.3:c.848C>A