ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA326355
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53150
ClinVar RCV Id:
RCV000057830
RCV000853590
RCV004017356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Thr322Lys
CA008945
NM_000218.3:c.965C>A