Allele Registry

Canonical Allele Identifier: PA2573101851

Gene: USH2A HGNC NCBI

ClinVar Allele:

431607

ClinVar RCV:

RCV000504774

RCV001300494

RCV001834624

RCV003464081

ClinVar Variation:

438032

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Pro309Leu	CA344912616 NM_206933.4:c.926C>T