ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826077093
Gene: CLCN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001164558.1:p.Ala743Val
CA347661
NM_001171087.2:c.2228C>T