ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270073
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143116
ClinVar RCV Id:
RCV000132637
RCV000938878
RCV003330509
RCV003888558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Ile3070Thr
CA270072
NM_001142800.2:c.9209T>C