ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830340969
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_742055.1:p.Tyr438Cys
CA371466670
NM_172058.4:c.1313A>G