Canonical Allele Identifier: PA2573101963
Gene: USH2A HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_996816.3:p.Met4091Ile
NM_206933.4:c.12273G>A

NM_206933.4:c.12273G>C

NM_206933.4:c.12273G>T