Canonical Allele Identifier: PA2573161173
Gene: CLCN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Glu724Asp
CA4537560
NM_000083.3:c.2172G>T
CA369650835
NM_000083.3:c.2172G>C