Canonical Allele Identifier: PA2573190300
Gene: CLCN7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1348047
ClinVar RCV Id: RCV002044123

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278.1:p.Gln750His
CA394185446
NM_001287.6:c.2250G>T
CA394185447
NM_001287.6:c.2250G>C