Allele Registry

Canonical Allele Identifier: PA2827332662

Gene: OFD1 HGNC NCBI

ClinVar RCV:

RCV000012293

ClinVar Variation:

11537

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317138.1:p.Ser395Arg	CA341099 NM_001330209.2:c.1183A>C CA412342708 NM_001330209.2:c.1185T>A CA412342710 NM_001330209.2:c.1185T>G