Canonical Allele Identifier: PA121685
Gene: CLCN5 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000075.1:p.Trp343Ter
NM_000084.5:c.1028G>A

NM_000084.5:c.1029G>A