Canonical Allele Identifier: PA2825571576
Gene: CLCN7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1713398
ClinVar RCV Id: RCV002302918
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107803.1:p.Asn750Lys
CA394185103
NM_001114331.3:c.2250C>G
CA394185104
NM_001114331.3:c.2250C>A