Canonical Allele Identifier: PA2580102936
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2070373
ClinVar RCV Id: RCV002967087
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Phe178Leu
CA369683905
NM_000083.3:c.532T>C
CA369683934
NM_000083.3:c.534C>A
CA369683937
NM_000083.3:c.534C>G