Canonical Allele Identifier: PA915953578
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280100
ClinVar RCV Id: RCV000305463 RCV000560216 RCV001753743 RCV003319192 RCV004535246
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Gly285Glu
CA4537163
NM_000083.3:c.854G>A