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: PA658810501

Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 509820

ClinVar RCV Id: RCV000602929 RCV001341322

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001180395.1:p.Arg299His	CA8618927 NM_001193466.2:c.896G>A