Canonical Allele Identifier: PA3073446107
Gene: CLCN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Gly118Arg
CA369682144
NM_000083.3:c.352G>C
CA369682147
NM_000083.3:c.352G>A