ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826077111
Gene: CLCN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001164558.1:p.Arg783Gln
CA2733709
NM_001171087.2:c.2348G>A