Allele Registry

Canonical Allele Identifier: PA2827332873

Gene: OFD1 HGNC NCBI

ClinVar RCV:

RCV000435733

RCV000638949

RCV000721041

ClinVar Variation:

376777

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317138.1:p.Pro647Leu	CA10351924 NM_001330209.2:c.1940C>T