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: PA2741881558

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2750950

ClinVar RCV Id: RCV003589469

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369164.1:p.His697Gln	CA409639129 NM_001382235.1:c.2091T>G CA409639130 NM_001382235.1:c.2091T>A