Canonical Allele Identifier: PA2580102980
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2136616
ClinVar RCV Id: RCV003062144
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Gly200Arg
CA369684451
NM_000083.3:c.598G>A
CA369684452
NM_000083.3:c.598G>C