ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913200606
Gene: CLCN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121371.1:p.Glu734Ala
CA10413976
NM_001127899.4:c.2201A>C