Canonical Allele Identifier: PA915953614
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21050
ClinVar RCV Id: RCV000020118 RCV000477848 RCV000483128 RCV002243656 RCV004541011
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Phe307Ser
CA341557
NM_000083.3:c.920T>C