Canonical Allele Identifier: CA1139655816
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 982920
ClinVar RCV Id: RCV001262653
dbSNP Id: rs2084759300

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529086_129529097del , CM000665.2:g.129529086_129529097del GRCh38
NC_000003.11:g.129247929_129247940del , CM000665.1:g.129247929_129247940del GRCh37
NC_000003.10:g.130730619_130730630del NCBI36
NG_009115.1:g.5448_5459del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.353_361+3del
ENST00000296271.3:c.353_361+3del
NM_000539.3:c.353_361+3del