ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119168
Gene: EYA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742057.1:p.Gly393Ser
CA119167
NM_172060.3:c.1177G>A