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: PA915984181

Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 536298

ClinVar RCV Id: RCV000644674

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_056258.1:p.Thr966Ile