ClinGen Allele Registry
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Canonical Allele Identifier:
PA221546
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93604
ClinVar RCV Id:
RCV000079529
RCV001164893
RCV001449926
RCV003935031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Gln770Pro
CA221545
NM_001142800.2:c.2309A>C