ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580163249
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_001180569.1:p.Ile990Val
CA1312313
NM_001193640.2:c.2968A>G