Canonical Allele Identifier: PA1139762620
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 966629
ClinVar RCV Id: RCV001241356
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Asp850His
CA344864558
NM_206933.4:c.2548G>C