ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830340990
Gene: EYA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742055.1:p.Ser487Pro
CA254274
NM_172058.4:c.1459T>C