Canonical Allele Identifier: PA1139690524
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 969423
ClinVar RCV Id: RCV001244772
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Asp982Asn
CA369654299
NM_000083.3:c.2944G>A