Canonical Allele Identifier: PA1139762912
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48506
ClinVar RCV Id: RCV000041832 RCV000291877 RCV000346771 RCV000669144 RCV002513602 RCV003162354
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ile1234Val
CA143467
NM_206933.4:c.3700A>G