Canonical Allele Identifier: PA1139761873
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48496
ClinVar RCV Id: RCV000041822 RCV000668396 RCV001470222
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Leu105Phe
CA143456
NM_206933.4:c.313C>T