Allele Registry

Canonical Allele Identifier: PA1139765208

Gene: USH2A HGNC NCBI

ClinVar Allele:

57590

ClinVar RCV:

RCV000041751

RCV001245454

RCV001272937

RCV001376435

ClinVar Variation:

48428

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Glu4701Lys	CA143336 NM_206933.4:c.14101G>A