Canonical Allele Identifier: PA1139764481
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 229614
ClinVar RCV Id: RCV000217733 RCV000763829 RCV001274951 RCV001453428
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg3522Gly
CA1393991
NM_206933.4:c.10564A>G