Canonical Allele Identifier: PA2580279214
Gene: OPHN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2294028
ClinVar RCV Id: RCV002859799 RCV004538867
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002538.1:p.Pro702His
CA413430233
NM_002547.3:c.2105C>A