Canonical Allele Identifier: PA326071
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52958
ClinVar RCV Id: RCV000057554 RCV001350647
ClinVar Variation Id: 1203515
ClinVar RCV Id: RCV001569581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Gln240His
CA005281
NM_181798.1:c.720G>T
CA379133878
NM_181798.1:c.720G>C