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: PA645505995

Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205808

ClinVar RCV Id: RCV000187796 RCV000624715 RCV001342875

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056258.1:p.Arg299Cys	CA315243 NM_015443.4:c.895C>T