ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645469631
Gene: EYA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410661
ClinVar RCV Id:
RCV000469324
RCV001580498
RCV002393147
RCV004533197
RCV003224289
RCV003317224
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004091.3:p.Thr250Asn
CA4008143
NM_004100.5:c.749C>A