ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA326315
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53132
ClinVar RCV Id:
RCV000057803
RCV001379437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Thr309Ile
CA008720
NM_000218.3:c.926C>T