Canonical Allele Identifier: PA916071966
Gene: USH2A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Asp703Glu
CA344866249
NM_206933.3:c.2109T>G
CA344866252
NM_206933.3:c.2109T>A