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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:
PA2829769986
Gene: KIF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
835091
ClinVar RCV Id:
RCV001035900
RCV004030965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055889.2:p.Pro1169Leu
CA581835
NM_015074.3:c.3506C>T