Allele Registry

Canonical Allele Identifier: PA2827332475

Gene: OFD1 HGNC NCBI

ClinVar RCV:

RCV002057049

RCV004020507

ClinVar Variation:

219659

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317138.1:p.Pro119Thr	CA349854 NM_001330209.2:c.355C>A