ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826192714
Gene: CRB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180569.1:p.Pro1193Leu
CA344052517
NM_001193640.2:c.3578C>T