ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139698739
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
862370
ClinVar RCV Id:
RCV001069076
RCV001272965
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.Lys2531Glu
CA140243942
NM_001292009.1:c.7591A>G