Canonical Allele Identifier: PA218579
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67003
ClinVar RCV Id: RCV000057522

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Phe335Leu
CA004792
NM_000218.3:c.1003T>C
CA379133093
NM_000218.3:c.1005T>A
CA379133094
NM_000218.3:c.1005T>G