Canonical Allele Identifier: PA1139765261
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48433
ClinVar RCV Id: RCV000041756 RCV000665736 RCV001057445 RCV001198544 RCV003450788 RCV003887895
ClinVar Variation Id: 1457114
ClinVar RCV Id: RCV001947055
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly4763Arg
CA262091
NM_206933.4:c.14287G>A
CA344835145
NM_206933.4:c.14287G>C