ClinGen Allele Registry
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Canonical Allele Identifier:
PA916018581
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438209
ClinVar RCV Id:
RCV000505047
RCV000670181
RCV001362404
RCV002282186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.Arg2811Gly
CA364385090
NM_001292009.1:c.8431A>G