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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:
PA2828192109
Gene: KIF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1777207
ClinVar RCV Id:
RCV003100771
RCV004059709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352880.1:p.Thr596Ile
CA17813567
NM_001365951.3:c.1787C>T