ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826192222
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5732
ClinVar RCV Id:
RCV000006086
RCV000086317
RCV000656137
RCV000787577
RCV001052374
RCV001074882
RCV001250604
RCV001352991
RCV003447471
RCV003450615
RCV002496279
RCV004540990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180569.1:p.Arg652Cys
CA228006
NM_001193640.2:c.1954C>T