ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573082020
Gene: OPHN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002538.1:p.Val57Asp
CA413432596
NM_002547.3:c.170T>A