Canonical Allele Identifier: PA1139762097
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 438002
ClinVar RCV Id: RCV000504656 RCV000804683 RCV000824796 RCV001836644 RCV000665487 RCV001075415 RCV001834622
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr352Ile
CA1396612
NM_206933.4:c.1055C>T