Canonical Allele Identifier: PA2580102961
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2173119
ClinVar RCV Id: RCV002598559 RCV003143495
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Arg199Pro
CA369684441
NM_000083.3:c.596G>C