Canonical Allele Identifier: PA2826547855
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 540588
ClinVar RCV Id: RCV000650665 RCV001551495 RCV002270931 RCV002270930
ClinVar Variation Id: 798167
ClinVar RCV Id: RCV000981675 RCV002550565 RCV002549569 RCV003962950
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001258932.1:p.Met398Leu
CA5326845
NM_001272003.2:c.1192A>T
CA375501845
NM_001272003.2:c.1192A>C
CA658797372
NM_001272003.2:c.1191_1192delinsAT