Canonical Allele Identifier: PA1139763396
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48546
ClinVar RCV Id: RCV000041872 RCV000726918 RCV000765069 RCV000504937 RCV001196428 RCV001579152
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ala1953Gly
CA143534
NM_206933.4:c.5858C>G