Canonical Allele Identifier: PA2573102026
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48487
ClinVar RCV Id: RCV000041813 RCV000488324 RCV000504801 RCV000754555 RCV000787896 RCV001100748 RCV001775076
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ser841Tyr
CA248655
NM_206933.4:c.2522C>A