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: PA2826186353

Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2820998

ClinVar RCV Id: RCV003643829

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001180395.1:p.Ala1099Pro	CA399985486 NM_001193466.2:c.3295G>C