ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826447195
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5737
ClinVar RCV Id:
RCV000006091
RCV000086346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244894.1:p.Cys1157Arg
CA228041
NM_001257965.2:c.3469T>C