ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA326127
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53010
ClinVar RCV Id:
RCV000057623
RCV000239705
RCV002408546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly568Ala
CA006239
NM_000218.3:c.1703G>C