Canonical Allele Identifier: PA2580566701
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1990676
ClinVar RCV Id: RCV002801052
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ser754Leu
CA344865358
NM_206933.4:c.2261C>T