Canonical Allele Identifier: PA1139762956
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166506
ClinVar RCV Id: RCV000152617 RCV000930617 RCV003888579
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Met1344Val
CA179566
NM_206933.4:c.4030A>G