Canonical Allele Identifier: PA2573315865
Gene: USH2A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Lys1393Asn
CA344866380
NM_206933.4:c.4179A>C
CA344866382
NM_206933.4:c.4179A>T