Canonical Allele Identifier: PA915953755
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 546108
ClinVar RCV Id: RCV000019088 RCV000657922 RCV000810078 RCV003989574
ClinVar Variation Id: 570776
ClinVar RCV Id: RCV000691722
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Gly482Arg
CA4537375
NM_000083.3:c.1444G>A
CA369645380
NM_000083.3:c.1444G>C