ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA326185
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53055
ClinVar RCV Id:
RCV000057686
RCV003319309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Thr169Arg
CA007290
NM_000218.3:c.506C>G