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: PA658803115

Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 522585

ClinVar RCV Id: RCV000625723

ClinVar Variation Id: 3070021

ClinVar RCV Id: RCV004010053

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Thr312Ser	CA379132966 NM_000218.3:c.934A>T CA379132970 NM_000218.3:c.935C>G