Canonical Allele Identifier: PA2573316696
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1434666
ClinVar RCV Id: RCV001962506
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.His4248Leu
CA1393415
NM_206933.4:c.12743A>T