ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825051946
Gene: CLCN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
591443
ClinVar RCV Id:
RCV000722622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000075.1:p.Asp391Ala
CA413185937
NM_000084.5:c.1172A>C