Allele Registry

Canonical Allele Identifier: PA1139765464

Gene: USH2A HGNC NCBI

ClinVar Allele:

57623

ClinVar RCV:

RCV001247642

RCV001810412

RCV002483032

ClinVar Variation:

48461

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Cys5122Arg	CA143395 NM_206933.4:c.15364T>C