Canonical Allele Identifier: PA252568
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3118
ClinVar RCV Id: RCV000003265 RCV000057749 RCV000182109 RCV000190212 RCV000619506
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Val127Met
CA008122
NM_181798.1:c.379G>A