Canonical Allele Identifier: PA645393887
Gene: CLCN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.2:p.Gly190Arg
CA4537004
NM_000083.2:c.568G>A
CA369684235
NM_000083.2:c.568G>C