ClinGen Allele Registry
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Canonical Allele Identifier:
PA150918
Gene: CEP290
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001396
RCV000086298
RCV000114202
RCV000515339
RCV000531295
RCV000787813
RCV001000092
RCV001002714
RCV001073790
RCV001261607
RCV001276487
RCV001542773
RCV001815157
RCV001836688
RCV001836689
RCV003147273
ClinVar Variation:
1333
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079390.3:p.Gly1890Ter