ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826601739
Gene: CLCN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269092.1:p.Thr683Met
CA10413974
NM_001282163.2:c.2048C>T