Canonical Allele Identifier: PA915953498
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17532
ClinVar RCV Id: RCV000019084 RCV000020113 RCV000291823 RCV000627758 RCV004532391 RCV003317041
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Gly230Glu
CA258012
NM_000083.3:c.689G>A