ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825571503
Gene: CLCN7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1341883
ClinVar RCV Id:
RCV001837363
RCV002542803
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107803.1:p.Val668Met
CA7809915
NM_001114331.3:c.2002G>A