Canonical Allele Identifier: PA658718344
Gene: KCNQ1 HGNC NCBI
ClinVar RCV:
RCV000590986
ClinVar Variation:
431053
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Ala2Gly
CA379115683
NM_000218.3:c.5C>G