ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3074700307
Gene: EYA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000494.2:p.Arg440Pro
CA371466658
NM_000503.5:c.1319G>C