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: PA328320

Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67102

ClinVar RCV Id: RCV000057745

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Trp121Cys	CA008058 NM_181798.1:c.363G>C CA379131006 NM_181798.1:c.363G>T