Canonical Allele Identifier: PA3082806208
Gene: CLCN7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278.1:p.Val418Leu
CA394189234
NM_001287.6:c.1252G>T
CA394189235
NM_001287.6:c.1252G>C