ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580187195
Gene: CLCN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269092.1:p.Lys61Arg
CA413182240
NM_001282163.2:c.182A>G