ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096938
Gene: EYA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008402
RCV003593858
ClinVar Variation:
7940
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000494.2:p.Ser487Pro
CA254274
NM_000503.5:c.1459T>C