ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825662476
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_001121370.1:p.Glu474Lys
CA413186114
NM_001127898.4:c.1420G>A