Canonical Allele Identifier: PA2741898411
Gene: OPHN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2540650
ClinVar RCV Id: RCV003271918 RCV003575064
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002538.1:p.Leu673Phe
CA330807965
NM_002547.3:c.2019G>C
CA413430406
NM_002547.3:c.2019G>T