ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA326245
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53091
ClinVar RCV Id:
RCV000046111
RCV000057741
RCV000255620
RCV002381342
RCV003591648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg116Cys
CA008011
NM_181798.1:c.346C>T