Canonical Allele Identifier: PA2580279208
Gene: OPHN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1927718
ClinVar RCV Id: RCV002621836
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002538.1:p.Gly660Arg
CA413430556
NM_002547.3:c.1978G>C