ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826446998
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1064319
ClinVar RCV Id:
RCV001374273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244894.1:p.Glu948Gln
CA344043489
NM_001257965.2:c.2842G>C