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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:
PA645382422
Gene: KNL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
315846
ClinVar RCV Id:
RCV000378550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733468.3:p.Ser457Pro
CA10635967
NM_170589.5:c.1369T>C