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: PA2573094474

Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1309799

ClinVar RCV Id: RCV001756867 RCV003107844

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_065873.2:p.Val506Met	CA201472666 NM_020822.3:c.1516G>A