Allele Registry

Canonical Allele Identifier: PA279420

Gene: OFD1 HGNC NCBI

ClinVar RCV:

RCV000201618

RCV001307208

RCV002307444

ClinVar Variation:

217687

HGVS (amino-acid)	Matching Registered Transcripts
NP_003602.1:p.His50Arg	CA279419 NM_003611.3:c.149A>G