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: PA2580364022

Gene: KMT2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2132567

ClinVar RCV Id: RCV003036812

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055542.1:p.Pro2138Thr	CA9385682 NM_014727.3:c.6412C>A