ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499243145
Gene: CRB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244895.1:p.Cys758Tyr
CA1312440
NM_001257966.2:c.2273G>A