Canonical Allele Identifier: PA1139765451
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48455
ClinVar RCV Id: RCV000041778 RCV000087008 RCV000674670 RCV001271911
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg5031Trp
CA143384
NM_206933.4:c.15091C>T