Canonical Allele Identifier: PA1139764670
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48367
ClinVar RCV Id: RCV000041688 RCV000513396 RCV001271138 RCV004541215
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Glu3731Gln
CA143247
NM_206933.4:c.11191G>C