ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826078353
Gene: CLCN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001164560.1:p.Ala760Val
CA347661
NM_001171089.2:c.2279C>T