ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825051952
Gene: CLCN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1805461
ClinVar RCV Id:
RCV002471879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000075.1:p.Glu404Lys
CA413186114
NM_000084.5:c.1210G>A