Canonical Allele Identifier: PA1139762800
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48501
ClinVar RCV Id: RCV000041827 RCV001061173 RCV001831703 RCV003450840
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg1135Ser
CA143463
NM_206933.4:c.3405G>C
CA344868787
NM_206933.4:c.3405G>T