Canonical Allele Identifier: PA328379
Gene: KCNQ1 HGNC NCBI
ClinVar RCV:
RCV000057821
ClinVar Variation:
67127
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Gly316Val
CA008856
NM_000218.3:c.947G>T