ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA306078
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
197482
ClinVar RCV:
RCV000182318
RCV001852308
RCV002381590
ClinVar Variation:
200904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg452Leu
CA005686
NM_000218.3:c.1355G>T