ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510244
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438210
ClinVar RCV Id:
RCV000504755
RCV000670630
RCV001857221
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Asp2873Gly
CA364384359
NM_001142800.2:c.8618A>G