ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580305784
Gene: CLCN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004357.3:p.Cys788Trp
CA2733716
NM_004366.6:c.2364C>G