Canonical Allele Identifier: PA658827338
Gene: CLCN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.2:p.Gly482Arg
CA4537375
NM_000083.2:c.1444G>A
CA369645380
NM_000083.2:c.1444G>C