Allele Registry

Canonical Allele Identifier: PA645427608

Gene: OFD1 HGNC NCBI

ClinVar RCV:

RCV000435733

RCV000638949

RCV000721041

ClinVar Variation:

376777

HGVS (amino-acid)	Matching Registered Transcripts
NP_003602.1:p.Pro687Leu	CA10351924 NM_003611.3:c.2060C>T