ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270060
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143108
ClinVar RCV Id:
RCV000132629
RCV001075666
RCV001062126
RCV001826794
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Gly2186Glu
CA270059
NM_001142800.2:c.6557G>A