Canonical Allele Identifier: PA1139765216
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166425
ClinVar RCV Id: RCV000152564 RCV000668395
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Leu4703Ser
CA179505
NM_206933.4:c.14108T>C