Canonical Allele Identifier: PA1139764759
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 178574
ClinVar RCV Id: RCV000155322 RCV000664687 RCV001274938 RCV001579277 RCV001244553
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Glu3939Lys
CA182588
NM_206933.4:c.11815G>A