Allele Registry

Canonical Allele Identifier: PA645438005

Gene: NSD1 HGNC NCBI

ClinVar RCV:

RCV000434491

RCV003231479

ClinVar Variation:

382562

HGVS (amino-acid)	Matching Registered Transcripts
NP_071900.2:p.Met2500Ile	CA3578145 NM_022455.5:c.7500G>C CA362332544 NM_022455.5:c.7500G>A CA362332558 NM_022455.5:c.7500G>T