ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825571272
Gene: CLCN7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107803.1:p.Val394Met
CA344953
NM_001114331.3:c.1180G>A