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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:
PA343188
Gene: TINF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38924
ClinVar RCV Id:
RCV000032175
RCV001818202
RCV001852639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092744.1:p.Leu287Pro
CA343187
NM_001099274.3:c.860T>C