ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825850843
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
862370
ClinVar RCV Id:
RCV001069076
RCV001272965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Lys2531Glu
CA140243942
NM_001142800.2:c.7591A>G