Canonical Allele Identifier: PA1139764875
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 850897
ClinVar RCV Id: RCV001055174 RCV001074357 RCV001272949 RCV002481997 RCV003455251
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr4234Met
CA1393419
NM_206933.4:c.12701C>T