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: PA2580535461

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2433027

ClinVar RCV Id: RCV003133812 RCV004538900

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Arg541Lys	CA409645150 NM_172107.3:c.1622G>A