Canonical Allele Identifier: PA2573181816
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1686572
ClinVar RCV Id: RCV002247085

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121371.1:p.Phe343Leu
CA413185034
NM_001127899.4:c.1027T>C
CA413185039
NM_001127899.4:c.1029T>A
CA413185040
NM_001127899.4:c.1029T>G