ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826447116
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2140754
ClinVar RCV Id:
RCV003056609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244894.1:p.Ile1078Val
CA1312313
NM_001257965.2:c.3232A>G