Canonical Allele Identifier: PA2573102034
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 242397
ClinVar RCV Id: RCV000986539 RCV001073837 RCV001857783 RCV002298551 RCV003445719
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Tyr1123Cys
CA1396001
NM_206933.4:c.3368A>G