Canonical Allele Identifier: PA1139765485
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48465
ClinVar RCV Id: RCV000041788 RCV001276136 RCV002504925 RCV002513599 RCV003460550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ile5166Val
CA143403
NM_206933.4:c.15496A>G