Canonical Allele Identifier: PA2573181831
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1492930
ClinVar RCV Id: RCV002012524
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121371.1:p.Leu465Arg
CA329782445
NM_001127899.4:c.1394T>G