ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573316513
Gene: CRB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_957705.1:p.Cys239Phe
CA344083243
NM_201253.3:c.716G>T