Canonical Allele Identifier: PA2741809807
Gene: CLCN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Trp164Arg
CA369683627
NM_000083.3:c.490T>A
CA369683630
NM_000083.3:c.490T>C