Canonical Allele Identifier: PA1139763636
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48566
ClinVar RCV Id: RCV000041892 RCV000923089 RCV001826600 RCV003450878 RCV003888403
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Val2228Glu
CA143566
NM_206933.4:c.6683T>A