Canonical Allele Identifier: PA658814501
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 530915
ClinVar RCV Id: RCV000636989 RCV001835024
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Lys2437Asn
CA6711296
NM_025114.4:c.7311G>T
CA385972587
NM_025114.4:c.7311G>C