Canonical Allele Identifier: PA2829689322
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 623724
ClinVar RCV Id: RCV000761705 RCV001199792
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Cys815Ser
CA344864787
NM_007123.6:c.2444G>C
CA344864789
NM_007123.6:c.2443T>A