Allele Registry

Canonical Allele Identifier: PA2828648248

Gene: BBOX1 HGNC NCBI

ClinVar RCV:

RCV004112182

ClinVar Variation:

2253676

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363190.1:p.Asp336Val	CA380068424 NM_001376261.1:c.1007A>T