Canonical Allele Identifier: PA2742037461
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2966933
ClinVar RCV Id: RCV003829067
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys4140Ser
CA344850966
NM_206933.4:c.12419G>C
CA344850969
NM_206933.4:c.12418T>A