ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA111582
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53149
ClinVar RCV Id:
RCV000057829
RCV000182147
RCV001258360
RCV001386679
RCV002381344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Thr322Ala
CA008936
NM_000218.3:c.964A>G