ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830467783
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1469683
ClinVar RCV Id:
RCV001961694
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_957705.1:p.Glu710Lys
CA1312035
NM_201253.3:c.2128G>A