Allele Registry

Canonical Allele Identifier: PA1139763548

Gene: USH2A HGNC NCBI

ClinVar Allele:

228332

ClinVar RCV:

RCV000220285

RCV000724908

RCV001273038

RCV004020605

RCV004532748

ClinVar Variation:

228218

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Ala2122Ser	CA1395161 NM_206933.4:c.6364G>T