ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826446510
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1043603
ClinVar RCV Id:
RCV001347732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244894.1:p.Ile477Thr
CA344031808
NM_001257965.2:c.1430T>C