Canonical Allele Identifier: PA916072953
Gene: USH2A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Gly2752Arg
CA1394634
NM_206933.3:c.8254G>A
CA344832669
NM_206933.3:c.8254G>C