ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063916234
Gene: CLCNKB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000076.2:p.Ala349Val
CA338640513
NM_000085.5:c.1046C>T