ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645462442
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
357744
ClinVar RCV Id:
RCV000382952
RCV000969945
RCV001277018
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Asn382Ile
CA3877857
NM_001142800.2:c.1145A>T