Canonical Allele Identifier: PA2830390551
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1772259
ClinVar RCV Id: RCV002391821
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Val347Leu
CA379479431
NM_181798.1:c.1039G>C
CA379479432
NM_181798.1:c.1039G>T