Canonical Allele Identifier: PA2499305763
Gene: USH2A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Val4805Leu
CA344833924
NM_206933.4:c.14413G>C
CA344833926
NM_206933.4:c.14413G>T