Canonical Allele Identifier: PA1139764042
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 812454
ClinVar RCV Id: RCV001003265
ClinVar Variation Id: 1419948
ClinVar RCV Id: RCV001910739

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ser2907Arg
CA1394529
NM_206933.4:c.8719A>C
CA344851446
NM_206933.4:c.8721T>G
CA344851447
NM_206933.4:c.8721T>A