ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915983402
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373569
ClinVar RCV Id:
RCV000414607
RCV001207041
RCV001828387
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244895.1:p.Ala818Asp
CA1312549
NM_001257966.2:c.2453C>A