ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741917698
Gene: KCNB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004966.1:p.Ile430Val
CA409014234
NM_004975.4:c.1288A>G