Canonical Allele Identifier: PA1139763519
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166488
ClinVar RCV Id: RCV000152606 RCV000664998 RCV000922822 RCV001003269 RCV001252668 RCV001273039
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro2078Arg
CA179550
NM_206933.4:c.6233C>G