Canonical Allele Identifier: PA915953795
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447054
ClinVar RCV Id: RCV000517072 RCV001049002 RCV003338626
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Val536Ile
CA4537439
NM_000083.3:c.1606G>A