Allele Registry

Canonical Allele Identifier: PA1139763024

Gene: USH2A HGNC NCBI

ClinVar Allele:

57679

ClinVar RCV:

RCV000041843

RCV001033957

RCV003450845

RCV003450846

ClinVar Variation:

48517

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Ala1511Val	CA143485 NM_206933.4:c.4532C>T