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Canonical Allele Identifier: Get Identifier
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Phe4117Leu
CA1393484
NM_206933.4:c.12349T>C
CA344851181
NM_206933.4:c.12351T>G
CA344851183
NM_206933.4:c.12351T>A