Canonical Allele Identifier: PA143498
Gene: USH2A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Leu1572Phe
CA143497
NM_206933.3:c.4714C>T
CA658832925
NM_206933.3:c.[4714C>T;2299del]