ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3073461500
Gene: CLCN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Phe413Tyr
CA369643537
NM_000083.3:c.1238T>A