Canonical Allele Identifier: PA2573101994
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 143177
ClinVar RCV Id: RCV000132708 RCV000490337 RCV001221094 RCV003462052 RCV003888573
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro5078Arg
CA270149
NM_206933.4:c.15233C>G