ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828406574
Gene: EYA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242914
ClinVar RCV Id:
RCV000234887
RCV002518414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357262.1:p.Glu70Gln
CA4779922
NM_001370333.1:c.208G>C