Canonical Allele Identifier: PA1139762215
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48437
ClinVar RCV Id: RCV000041760 RCV000828962 RCV001099109 RCV001099108 RCV003887896
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Glu478Asp
CA143350
NM_206933.4:c.1434G>C
CA344910053
NM_206933.4:c.1434G>T