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: PA2830390844

Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 840838

ClinVar RCV Id: RCV001042935

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Asp476Glu	CA216345022 NM_181798.1:c.1428C>A CA379140203 NM_181798.1:c.1428C>G