ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826078100
Gene: CLCN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
800219
ClinVar RCV Id:
RCV000983885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001164560.1:p.Leu440Phe
CA2734173
NM_001171089.2:c.1318C>T