ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658661982
Gene: CEP290
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461773
ClinVar RCV Id:
RCV000526103
RCV000839270
RCV004537946
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079390.3:p.Thr400Ile
CA6712602
NM_025114.4:c.1199C>T