Canonical Allele Identifier: PA1139689628
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 966076
ClinVar RCV Id: RCV001240665 RCV001587269
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Val88Met
CA4536879
NM_000083.3:c.262G>A