ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573161084
Gene: CLCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1512799
ClinVar RCV Id:
RCV002023212
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Val163Ile
CA369683602
NM_000083.3:c.487G>A