Canonical Allele Identifier: PA2742037352
Gene: USH2A HGNC NCBI
ClinVar RCV:
RCV003890575
ClinVar Variation:
3028710
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gln2411Pro
CA344857464
NM_206933.4:c.7232A>C