Allele Registry

Canonical Allele Identifier: PA1139763794

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000041907

RCV000504969

RCV000667058

RCV000923961

RCV001171531

RCV001271984

RCV003224127

ClinVar Variation:

48581

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Ser2445Phe	CA143592 NM_206933.4:c.7334C>T