ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA305820
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67039
ClinVar RCV Id:
RCV000057598
RCV000182200
RCV002399418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Tyr522Ser
CA005936
NM_000218.3:c.1565A>C