ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580305643
Gene: CLCN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004357.3:p.Ile211Val
CA355456437
NM_004366.6:c.631A>G