Canonical Allele Identifier: PA2741809838
Gene: CLCN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Lys231Asn
CA369686033
NM_000083.3:c.693A>C
CA369686034
NM_000083.3:c.693A>T