Canonical Allele Identifier: PA1139764765
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 971118
ClinVar RCV Id: RCV001246817 RCV001835283 RCV003449791
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ala3975Thr
CA1393597
NM_206933.4:c.11923G>A