ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826192760
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2091063
ClinVar RCV Id:
RCV003013419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180569.1:p.Ala1225Thr
CA344035384
NM_001193640.2:c.3673G>A