Canonical Allele Identifier: PA916072173
Gene: USH2A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Cys1002Ser
CA344863005
NM_206933.3:c.3005G>C
CA344863009
NM_206933.3:c.3004T>A