Canonical Allele Identifier: PA3057617497
Gene: KCNQ1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Asn238Asp
CA379133848
NM_181798.1:c.712A>G