Canonical Allele Identifier: PA1139763511
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48553
ClinVar RCV Id: RCV000041879 RCV000664994 RCV000726921 RCV001273040
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.His2045Arg
CA143546
NM_206933.4:c.6134A>G