ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510238
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438204
ClinVar RCV Id:
RCV000505095
RCV001219169
RCV001834630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Leu2158Pro
CA3876911
NM_001142800.2:c.6473T>C