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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:
PA2828195316
Gene: KIF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1777143
ClinVar RCV Id:
RCV003097052
RCV004058160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352882.1:p.Val549Met
CA17813566
NM_001365953.1:c.1645G>A