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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:
PA2829768748
Gene: KIF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2625688
ClinVar RCV Id:
RCV004366404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055889.2:p.Ser676Pro
CA338332337
NM_015074.3:c.2026T>C