Canonical Allele Identifier: PA915953698
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17531
ClinVar RCV Id: RCV000019083 RCV000346725 RCV000184008 RCV000638232 RCV002291268 RCV001548747
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Phe413Cys
CA258010
NM_000083.3:c.1238T>G