Allele Registry

Canonical Allele Identifier: PA2573102139

Gene: USH2A HGNC NCBI

ClinVar Allele:

152893

ClinVar RCV:

RCV000132706

RCV000144482

RCV000675147

RCV002514760

RCV003462051

RCV003888572

ClinVar Variation:

143175

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Ser4748Phe	CA270145 NM_206933.4:c.14243C>T