ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645463129
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
357695
ClinVar RCV Id:
RCV000401845
RCV000998642
RCV001833474
RCV002524500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Arg2345His
CA3876855
NM_001142800.2:c.7034G>A