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: PA111573

Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3116

ClinVar RCV Id: RCV000003263 RCV000057808 RCV000182136 RCV001386969 RCV001841222 RCV002444417

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Thr312Ile	CA008759 NM_000218.3:c.935C>T