ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830341218
Gene: EYA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2807432
ClinVar RCV Id:
RCV003760753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742056.2:p.Tyr432Cys
CA371466670
NM_172059.5:c.1295A>G