Canonical Allele Identifier: PA2573101947
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 444200
ClinVar RCV Id: RCV000513076 RCV001199567
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro3499Thr
CA344837740
NM_206933.4:c.10495C>A