ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826447858
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99870
ClinVar RCV Id:
RCV000086308
RCV000797320
RCV001376374
RCV001826777
RCV003453013
RCV003235040
RCV003453012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244895.1:p.Cys480Arg
CA227993
NM_001257966.2:c.1438T>C