Canonical Allele Identifier: PA1139764530
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48355
ClinVar RCV Id: RCV000041676 RCV000666226 RCV000804464 RCV001073629 RCV001293034 RCV001544538 RCV000824782 RCV003324502 RCV003323372
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr3571Met
CA262060
NM_206933.4:c.10712C>T