Canonical Allele Identifier: PA1139713074
Gene: KCNB1 HGNC NCBI
ClinVar RCV:
RCV001034169
ClinVar Variation:
833692
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004966.1:p.Thr788Met
CA9902942
NM_004975.4:c.2363C>T