ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826447789
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190990
ClinVar RCV Id:
RCV000171163
RCV001257859
RCV003765070
RCV004527365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244895.1:p.Cys394Arg
CA235768
NM_001257966.2:c.1180T>C