ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826446763
Gene: CRB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244894.1:p.Leu698Pro
CA344036931
NM_001257965.2:c.2093T>C