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Canonical Allele Identifier: Get Identifier
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501296.1:p.Leu1572Phe
CA143497
ENST00000674083.1:c.4714C>T
CA658832925
ENST00000674083.1:c.[4714C>T;2299del]