ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742033972
Gene: CRB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_957705.1:p.Cys1238Arg
CA1312380
NM_201253.3:c.3712T>C