Canonical Allele Identifier: PA1139761867
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48489
ClinVar RCV Id: RCV000041815 RCV000666896 RCV001075031 RCV001560407 RCV001376238
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys88Trp
CA143444
NM_206933.4:c.264C>G