Allele Registry

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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