Canonical Allele Identifier: PA2580103426
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1972367
ClinVar RCV Id: RCV002746141
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Leu988Val
CA369654364
NM_000083.3:c.2962C>G