ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916058483
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
357749
ClinVar RCV Id:
RCV000398864
RCV000955361
RCV001449944
RCV001700091
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_938024.1:p.Pro94Gln
CA3878102
NM_198283.2:c.281C>A