ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096900
Gene: EYA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48106
ClinVar RCV Id:
RCV000041392
RCV000763604
RCV001849294
RCV002243687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000494.2:p.Leu583Pro
CA262038
NM_000503.5:c.1748T>C