ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825052073
Gene: CLCN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000075.1:p.Thr663Ala
CA413190739
NM_000084.5:c.1987A>G