Allele Registry

Canonical Allele Identifier: PA111202

Gene: NSD1 HGNC NCBI

ClinVar RCV:

RCV003231082

RCV003313522

ClinVar Variation:

4140

2571813

HGVS (amino-acid)	Matching Registered Transcripts
NP_071900.2:p.Cys2183Ser	CA281542 NM_022455.5:c.6548G>C CA362323877 NM_022455.5:c.6547T>A