Canonical Allele Identifier: PA1139764922
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 229619
ClinVar RCV Id: RCV000215653 RCV000726657 RCV001272948
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ser4275Thr
CA1393401
NM_206933.4:c.12823T>A