ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139766715
Gene: EYS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_938024.1:p.Asn450Thr
CA3877776
NM_198283.2:c.1349A>C