ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830341200
Gene: EYA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1954162
ClinVar RCV Id:
RCV002705398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742056.2:p.Thr400Arg
CA179210190
NM_172059.5:c.1199C>G