Canonical Allele Identifier: PA915953373
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 359095
ClinVar RCV Id: RCV000263405 RCV000536073 RCV001571296 RCV004022040
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Arg105His
CA4536913
NM_000083.3:c.314G>A