Allele Registry

Canonical Allele Identifier: PA1139763833

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000041913

RCV000668816

ClinVar Variation:

48587

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Gln2615Arg	CA143603 NM_206933.4:c.7844A>G