ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741847837
Gene: CRB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244894.1:p.Ser982Tyr
CA344044595
NM_001257965.2:c.2945C>A