Canonical Allele Identifier: PA2827332750
Gene: OFD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447888

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317138.1:p.Gln505Arg
CA10351857
NM_001330209.2:c.1514A>G