Allele Registry

Canonical Allele Identifier: PA2573101916

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000678653

RCV001042036

RCV001724131

RCV002283505

RCV002469254

ClinVar Variation:

560523

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Pro2241Leu	CA344860455 NM_206933.4:c.6722C>T