Canonical Allele Identifier: PA1139762961
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48511
ClinVar RCV Id: RCV000041837 RCV000665274 RCV000726718 RCV001074345 RCV001723629 RCV003326116 RCV001376516 RCV002307377
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ser1369Leu
CA143476
NM_206933.4:c.4106C>T