Canonical Allele Identifier: PA658813124
Gene: USH2A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Trp2075Cys
CA344858996
NM_206933.3:c.6225G>C
CA344858999
NM_206933.3:c.6225G>T