ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828407183
Gene: EYA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228679
ClinVar RCV Id:
RCV000218571
RCV002503853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357265.1:p.Ala22Ser
CA10576738
NM_001370336.1:c.64G>T