Canonical Allele Identifier: PA645389876
Gene: USH2A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Met3868Leu
CA1393663
NM_206933.3:c.11602A>T
CA344833753
NM_206933.3:c.11602A>C