Canonical Allele Identifier: PA1139764076
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48612
ClinVar RCV Id: RCV000041938 RCV000669262 RCV001248550 RCV001276962 RCV003389453
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Leu3024His
CA143644
NM_206933.4:c.9071T>A