ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645463113
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423063
ClinVar RCV Id:
RCV000484804
RCV001272974
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Ser2183Gly
CA3876904
NM_001142800.2:c.6547A>G