ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828407345
Gene: EYA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000008400
RCV000309264
RCV000367199
RCV000496093
RCV000606853
RCV000657911
ClinVar Variation:
7938
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357265.1:p.Gly419Ser
CA119167
NM_001370336.1:c.1255G>A