Canonical Allele Identifier: PA2499305745
Gene: USH2A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Trp4464Arg
CA344845427
NM_206933.4:c.13390T>C
CA344845429
NM_206933.4:c.13390T>A