ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741851160
Gene: CLCN7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278.1:p.Ser435Leu
CA394189131
NM_001287.6:c.1304C>T