ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826192317
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
565382
ClinVar RCV Id:
RCV000684930
RCV001542641
RCV003472183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180569.1:p.Gly738Ser
CA1312139
NM_001193640.2:c.2212G>A