Allele Registry

Canonical Allele Identifier: PA2826796642

Gene: KDM6A HGNC NCBI

ClinVar RCV:

RCV000173515

RCV000870869

RCV001556266

RCV003816571

ClinVar Variation:

193446

2956860

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278345.1:p.Ala17dup	CA200581 NM_001291416.2:c.48_50dup CA2579591030 NM_001291416.2:c.49_51dup