Canonical Allele Identifier: PA2499291420
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 1056066
ClinVar RCV Id: RCV001364839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Asn1597Ser
CA385993353
NM_025114.4:c.4790A>G