Canonical Allele Identifier: PA1139764941
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48410
ClinVar RCV Id: RCV000041733 RCV001246661 RCV001272947
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ile4295Val
CA143306
NM_206933.4:c.12883A>G