Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA645414231

Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 281250

ClinVar RCV Id: RCV000280320 RCV000320212 RCV000354111 RCV000374721 RCV000342452 RCV000396707 RCV000637003 RCV000714822 RCV001589313 RCV001265795 RCV001275039 RCV001580478 RCV002294212 RCV003319345

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_079390.3:p.Ile364Met	CA6712623 NM_025114.4:c.1092T>G