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: PA2828815511

Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 388823

ClinVar RCV Id: RCV000431264 RCV002522472

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366127.1:p.Pro1102Leu	CA8618325 NM_001379198.1:c.3305C>T