Allele Registry

Canonical Allele Identifier: PA2827332439

Gene: OFD1 HGNC NCBI

ClinVar RCV:

RCV000723218

RCV001862128

ClinVar Variation:

592034

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317138.1:p.Ser76Phe	CA412333388 NM_001330209.2:c.227C>T