Canonical Allele Identifier: PA2573101708
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48535
ClinVar RCV Id: RCV000041861 RCV000667951 RCV001074044 RCV000710326 RCV001214945 RCV004537153 RCV003460552
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly1861Ser
CA262105
NM_206933.4:c.5581G>A