Canonical Allele Identifier: PA2580103397
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1721100
ClinVar RCV Id: RCV002294811
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Glu937Asp
CA369653856
NM_000083.3:c.2811G>C
CA369653857
NM_000083.3:c.2811G>T