Canonical Allele Identifier: PA1139689980
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 860796
ClinVar RCV Id: RCV001067172
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Glu548Lys
CA4537442
NM_000083.3:c.1642G>A