ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830468207
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_957705.1:p.Ile1102Val
CA1312313
NM_201253.3:c.3304A>G