Canonical Allele Identifier: PA1139690378
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 937438
ClinVar RCV Id: RCV001206446
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Asn908Lys
CA4537774
NM_000083.3:c.2724C>A
CA168231530
NM_000083.3:c.2724C>G