Canonical Allele Identifier: PA1139764917
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48407
ClinVar RCV Id: RCV000041730 RCV000756886 RCV001826589 RCV002504922 RCV003450769
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.His4248Arg
CA143302
NM_206933.4:c.12743A>G