ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580279189
Gene: OPHN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002538.1:p.Thr410Ala
CA413432752
NM_002547.3:c.1228A>G