Canonical Allele Identifier: PA2741809858
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2688789
ClinVar RCV Id: RCV003490568
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Ser294Phe
CA369641544
NM_000083.3:c.881C>T