ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828406847
Gene: EYA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2741006
ClinVar RCV Id:
RCV003593497
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357263.1:p.Ala416Thr
CA371466807
NM_001370334.1:c.1246G>A