ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110309
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5734
ClinVar RCV Id:
RCV000006088
RCV000086340
RCV002490326
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_957705.1:p.Ile1100Arg
CA117707
NM_201253.3:c.3299T>G