ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830341260
Gene: EYA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000041389
ClinVar Variation:
48103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742056.2:p.Tyr521Asn
CA262034
NM_172059.5:c.1561T>A