Canonical Allele Identifier: PA2580566885
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2136096
ClinVar RCV Id: RCV003036998
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Met1251Thr
CA344867765
NM_206933.4:c.3752T>C