Canonical Allele Identifier: PA2573161129
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1491598
ClinVar RCV Id: RCV003146459 RCV002010109
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Glu422Lys
CA168214308
NM_000083.3:c.1264G>A