Canonical Allele Identifier: PA2573161130
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1411357
ClinVar RCV Id: RCV001918812
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Thr426Pro
CA369643829
NM_000083.3:c.1276A>C