Canonical Allele Identifier: PA1139763821
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48588
ClinVar RCV Id: RCV000041914 RCV000672278 RCV002514163 RCV003450891 RCV003450892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Val2562Phe
CA143605
NM_206933.4:c.7684G>T