ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915973095
Gene: CLCN7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278.1:p.Arg280His
CA394190457
NM_001287.6:c.839G>A