ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3074801906
Gene: EYA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000494.2:p.Trp143Leu
CA4779766
NM_000503.5:c.428G>T