ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826707506
Gene: EYA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008403
ClinVar Variation:
7941
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275503.1:p.Leu499Arg
CA254276
NM_001288574.2:c.1496T>G