Canonical Allele Identifier: PA2830390525
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1450584
ClinVar RCV Id: RCV001990209
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Asp332Glu
CA379135167
NM_181798.1:c.996C>A
CA379135169
NM_181798.1:c.996C>G