Canonical Allele Identifier: PA143549
Gene: USH2A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Lys2080Asn
CA143548
NM_206933.3:c.6240G>T
CA344858925
NM_206933.3:c.6240G>C