ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA202472
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
137257
ClinVar RCV Id:
RCV000177451
RCV000882506
RCV001003019
RCV001292621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Val2040Asp
CA202471
NM_001142800.2:c.6119T>A