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: PA356440

Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219923

ClinVar RCV Id: RCV000206878 RCV002381704 RCV003591714

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Pro448Gln	CA028774 NM_000218.3:c.1343C>A