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: PA2826396653

Gene: KAT6B HGNC NCBI

Linked Data

ClinVar Variation Id: 2663227

ClinVar RCV Id: RCV003442415

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243398.1:p.Gly976Arg	CA5564909 NM_001256469.2:c.2926G>A CA377291900 NM_001256469.2:c.2926G>C