Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA130396

Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 39596

ClinVar RCV Id: RCV000032796 RCV000413294

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_065873.2:p.Ile760Met	CA130395 NM_020822.3:c.2280C>G