Canonical Allele Identifier: PA1139763341
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 178579
ClinVar RCV Id: RCV000155327 RCV000891558 RCV000986533 RCV004534990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Asn1875Ser
CA182598
NM_206933.4:c.5624A>G