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: PA645408537

Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286069

ClinVar RCV Id: RCV000323077

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_065873.2:p.Arg418Lys	CA10605353 NM_020822.3:c.1253G>A