Canonical Allele Identifier: PA143381
Gene: USH2A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Lys5026Glu
CA143380
NM_206933.3:c.15076A>G
CA2697554873
NM_206933.3:c.15075_15076delinsCG