Canonical Allele Identifier: PA2741898410
Gene: OPHN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2898747
ClinVar RCV Id: RCV003728616
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002538.1:p.Val668Ala
CA10436802
NM_002547.3:c.2003T>C