ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999690
Gene: OPHN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002538.1:p.Met380Thr
CA10436964
NM_002547.3:c.1139T>C