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: PA915984180

Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 566736

ClinVar RCV Id: RCV000686627

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056258.1:p.Ser965Pro	CA399987239 NM_015443.4:c.2893T>C