ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830468141
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1919368
ClinVar RCV Id:
RCV002594786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_957705.1:p.Ser1049Pro
CA344045988
NM_201253.3:c.3145T>C