Canonical Allele Identifier: PA244174
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 196795
ClinVar RCV Id: RCV000177662 RCV001273073 RCV001080328 RCV003150971
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Asp1368Asn
CA244173
NM_025114.4:c.4102G>A