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: PA2828385914

Gene: KAT6B HGNC NCBI

Linked Data

ClinVar Variation Id: 3065917

ClinVar RCV Id: RCV003989372

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357067.1:p.Asn1238Ser	CA377296566 NM_001370138.1:c.3713A>G