Canonical Allele Identifier: PA645414191
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 236469
ClinVar RCV Id: RCV000225409 RCV001854802
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.His50Tyr
CA10581687
NM_025114.4:c.148C>T