Allele Registry

Canonical Allele Identifier: PA142348

Gene: USH1C HGNC NCBI

ClinVar RCV:

RCV000041279

RCV000988495

RCV001512208

RCV001537986

ClinVar Variation:

48003

HGVS (amino-acid)	Matching Registered Transcripts
NP_005700.2:p.Glu519Asp	CA142347 NM_005709.4:c.1557G>C CA218483070 NM_005709.4:c.1557G>T