ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826601493
Gene: CLCN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1051620
ClinVar RCV Id:
RCV001359686
RCV003246935
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269092.1:p.Arg358Cys
CA10413848
NM_001282163.2:c.1072C>T