Canonical Allele Identifier: PA645422809
Gene: OPHN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 376905
ClinVar RCV Id: RCV000435383
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002538.1:p.Ser605Phe
CA10436827
NM_002547.3:c.1814C>T