Allele Registry

Canonical Allele Identifier: PA240716

Gene: OFD1 HGNC NCBI

ClinVar RCV:

RCV000175046

RCV000701169

ClinVar Variation:

194632

HGVS (amino-acid)	Matching Registered Transcripts
NP_003602.1:p.Ser723Leu	CA240715 NM_003611.3:c.2168C>T