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: PA2829531179

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 530434

ClinVar RCV Id: RCV000636298 RCV001771861

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Arg469His	CA9958448 NM_004518.5:c.1406G>A