Canonical Allele Identifier: PA1139762586
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166517
ClinVar RCV Id: RCV000152631 RCV000881023 RCV001100749 RCV001100750
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg837Gln
CA179584
NM_206933.4:c.2510G>A