ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA228023
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39614
ClinVar RCV Id:
RCV000032814
RCV000032815
RCV000086331
RCV000505155
RCV000554663
RCV000762874
RCV000787579
RCV001097540
RCV001275657
RCV003313928
RCV003324500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180569.1:p.Cys836Tyr
CA228022
NM_001193640.2:c.2507G>A