Canonical Allele Identifier: PA2826601552
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1953479
ClinVar RCV Id: RCV002700348

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269092.1:p.Glu424Asp
CA413186127
NM_001282163.2:c.1272G>T
CA413186129
NM_001282163.2:c.1272G>C