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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:
PA2829769981
Gene: KIF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1732066
ClinVar RCV Id:
RCV004048675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055889.2:p.Pro1167His
CA338342066
NM_015074.3:c.3500C>A