Canonical Allele Identifier: PA2499305728
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1047012
ClinVar RCV Id: RCV001351655
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Lys3948Glu
CA344828994
NM_206933.4:c.11842A>G