Canonical Allele Identifier: PA915953582
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17539
ClinVar RCV Id: RCV000019091 RCV000020117 RCV000626584 RCV000690053 RCV000711241 RCV001196224 RCV004528125
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Ile290Met
CA258020
NM_000083.3:c.870C>G