ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510236
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438203
ClinVar RCV Id:
RCV000504836
RCV001580505
RCV002524411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Cys2108Tyr
CA3876928
NM_001142800.2:c.6323G>A