Canonical Allele Identifier: PA1139763482
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48550
ClinVar RCV Id: RCV000041876 RCV000665501 RCV001509571 RCV002513603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Leu2015Phe
CA143540
NM_206933.4:c.6043C>T