Canonical Allele Identifier: PA915953490
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420147
ClinVar RCV Id: RCV000487022 RCV000803459
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Ala218Thr
CA4537025
NM_000083.3:c.652G>A