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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.[Gln4231_Tyr4241delinsPhePheAsnAsp;Trp4243_Ser4245del;Gly4247_His4248del;Cys4250_Asn4254delinsMetAspAla;Val4256_Gln4260del]
CA1012179129
NM_206933.4:c.12690_12691insTTTTTTAATGATACGG