Canonical Allele Identifier: PA328153
Gene: KCNQ1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Asn238His
CA005247
NM_181798.1:c.712A>C