Canonical Allele Identifier: PA143351
Gene: USH2A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Glu478Asp
CA143350
NM_206933.3:c.1434G>C
CA344910053
NM_206933.3:c.1434G>T