Canonical Allele Identifier: PA1139763822
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48589
ClinVar RCV Id: RCV000041915 RCV001271977 RCV000953014 RCV003450893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Val2562Ala
CA143607
NM_206933.4:c.7685T>C