ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826447968
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2577210
ClinVar RCV Id:
RCV003324287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244895.1:p.Ala593Thr
CA35893756
NM_001257966.2:c.1777G>A