Allele Registry

Canonical Allele Identifier: PA2827490160

Gene: SETD2 HGNC NCBI

ClinVar RCV:

RCV000122031

RCV000547348

RCV003436936

RCV004530037

ClinVar Variation:

135219

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336299.1:p.Thr548Lys	CA162050 NM_001349370.3:c.1643C>A