Allele Registry

Canonical Allele Identifier: PA1139763340

Gene: USH2A HGNC NCBI

ClinVar Allele:

57699

ClinVar RCV:

RCV000041863

RCV000585075

RCV001276245

RCV001543605

RCV001588861

ClinVar Variation:

48537

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Gly1871Asp	CA143523 NM_206933.4:c.5612G>A