Canonical Allele Identifier: PA915953434
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17548
ClinVar RCV Id: RCV000019102 RCV003387727
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Ser189Phe
CA258032
NM_000083.3:c.566C>T