Canonical Allele Identifier: PA2573102111
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166435
ClinVar RCV Id: RCV000152570 RCV000505138 RCV000669865 RCV000727077 RCV000787993 RCV001075370 RCV001274933 RCV004544385
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr4169Ala
CA179513
NM_206933.4:c.12505A>G