Canonical Allele Identifier: PA1139763011
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 178581
ClinVar RCV Id: RCV000155330 RCV000765070 RCV001276257 RCV001381659 RCV001376456 RCV003479024
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly1460Arg
CA182604
NM_206933.4:c.4378G>A
CA344865109
NM_206933.4:c.4378G>C