Canonical Allele Identifier: PA252594
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3138
ClinVar RCV Id: RCV000003286 RCV000046026 RCV000057632 RCV000182221 RCV000619349 RCV003319300
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Thr460Met
CA006328
NM_181798.1:c.1379C>T