Canonical Allele Identifier: PA1139763340
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48537
ClinVar RCV Id: RCV000041863 RCV000585075 RCV001276245 RCV001588861 RCV001543605
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly1871Asp
CA143523
NM_206933.4:c.5612G>A