Canonical Allele Identifier: PA1139762451
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48481
ClinVar RCV Id: RCV000041804 RCV000505164 RCV000627016 RCV000658550 RCV001075196 RCV001099033 RCV001171539 RCV002483035 RCV004541217
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Asp656Asn
CA143431
NM_206933.4:c.1966G>A