Canonical Allele Identifier: PA244172
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 196794
ClinVar RCV Id: RCV000177661 RCV001239880 RCV001826902 RCV004020112 RCV004539654
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Val1344Ala
CA244171
NM_025114.4:c.4031T>C