Canonical Allele Identifier: PA2499227906
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1013567
ClinVar RCV Id: RCV001312154 RCV003770636 RCV003883175
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Thr550Arg
CA369646480
NM_000083.3:c.1649C>G