Canonical Allele Identifier: PA1139765208
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48428
ClinVar RCV Id: RCV000041751 RCV001245454 RCV001272937 RCV001376435
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Glu4701Lys
CA143336
NM_206933.4:c.14101G>A