Allele Registry

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.

Canonical Allele Identifier: PA2828815272

Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 514852

ClinVar RCV Id: RCV000611472 RCV000686371

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366127.1:p.Leu822Val	CA8618558 NM_001379198.1:c.2464T>G