Allele Registry

Canonical Allele Identifier: PA2827332897

Gene: OFD1 HGNC NCBI

ClinVar RCV:

RCV000175046

RCV000701169

ClinVar Variation:

194632

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317138.1:p.Ser683Leu	CA240715 NM_001330209.2:c.2048C>T