Canonical Allele Identifier: PA916072435
Gene: USH2A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Trp1382Cys
CA1395796
NM_206933.3:c.4146G>C
CA344866520
NM_206933.3:c.4146G>T