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: PA2580531848

Gene: KMT2C HGNC NCBI

Linked Data

ClinVar Variation Id: 2433186

ClinVar RCV Id: RCV003133908

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_733751.2:p.Arg1730Leu	CA370100080 NM_170606.3:c.5189G>T