Canonical Allele Identifier: PA915953726
Gene: CLCN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Trp433Arg
CA168214377
NM_000083.3:c.1297T>C
CA369643962
NM_000083.3:c.1297T>A