Canonical Allele Identifier: PA2573101769
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 143185
ClinVar RCV Id: RCV000132717 RCV003237744
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys3251Arg
CA270162
NM_206933.4:c.9751T>C