Canonical Allele Identifier: PA121688
Gene: CLCN5 HGNC NCBI

Linked Data


Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001121371.1:p.Trp413Ter
NM_001127899.4:c.1238G>A

NM_001127899.4:c.1239G>A