Canonical Allele Identifier: PA2741809889
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2933226
ClinVar RCV Id: RCV003790344
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Arg390Leu
CA4537274
NM_000083.3:c.1169G>T