Canonical Allele Identifier: PA2499305546
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1006516
ClinVar RCV Id: RCV001303570 RCV001836271
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg3941Trp
CA1393614
NM_206933.4:c.11821C>T