ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916048423
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_001357262.1:p.Tyr556Asn
CA262034
NM_001370333.1:c.1666T>A