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Canonical Allele Identifier: Get Identifier
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.[Met1344_Glu1355delinsLysCysValPheCysLeuGlyLeuArgLysAsnGly;Thr1357_Glu1359delinsIle;Ala1361_Pro1368delinsThrCysIleHisAspProSerPhe;Val1370_Phe1371delinsLeuSer;Ser1374_Tyr1376delinsPheVal]
CA2586968484
NM_007123.6:c.4031_4038del