Canonical Allele Identifier: PA915953799
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208084
ClinVar RCV Id: RCV000194136 RCV000793565 RCV001823126 RCV003326370
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Thr550Met
CA347407
NM_000083.3:c.1649C>T