Allele Registry

Canonical Allele Identifier: PA3057727883

Gene: KCNQ1 HGNC NCBI

ClinVar Allele:

4014548

ClinVar RCV:

RCV005414042

ClinVar Variation:

3898708

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Asn238Lys	CA379133852 NM_181798.1:c.714C>A CA379133854 NM_181798.1:c.714C>G