ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916048405
Gene: EYA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357262.1:p.Glu392Lys
CA119165
NM_001370333.1:c.1174G>A