Canonical Allele Identifier: PA1139763960
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48601
ClinVar RCV Id: RCV000041927 RCV000505137 RCV000664665 RCV000937132 RCV001074998
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro2811Thr
CA262120
NM_206933.4:c.8431C>A