Canonical Allele Identifier: PA2827334164
Gene: OFD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 211787
ClinVar RCV Id: RCV000192398 RCV001223911 RCV002485287 RCV004020331
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317139.1:p.Ser722Ala
CA205192
NM_001330210.2:c.2164T>G