ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658654993
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444686
ClinVar RCV Id:
RCV000513506
RCV001159547
RCV001285867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.His2599Arg
CA3876776
NM_001142800.2:c.7796A>G