ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825850846
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
788537
ClinVar RCV Id:
RCV000970984
RCV001160925
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Lys2533Glu
CA3876794
NM_001142800.2:c.7597A>G