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: PA2829529723

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1053573

ClinVar RCV Id: RCV001361940

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Arg158Lys	CA409655230 NM_004518.5:c.473G>A