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: PA2828815510

Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3063731

ClinVar RCV Id: RCV003988319

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366127.1:p.Pro1102Gln	CA8618324 NM_001379198.1:c.3305C>A