Canonical Allele Identifier: PA2573082040
Gene: OPHN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1305308
ClinVar RCV Id: RCV001768515
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002538.1:p.Lys672Asn
CA413430412
NM_002547.3:c.2016G>T
CA413430413
NM_002547.3:c.2016G>C