ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA233963
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167050
ClinVar RCV Id:
RCV000153211
RCV000382484
RCV001073752
RCV001274970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Thr1825Asn
CA233962
NM_001142800.2:c.5474C>A