ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830390273
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1205067
ClinVar RCV:
RCV001593559
RCV003533013
ClinVar Variation:
1215084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gln240Arg
CA379133871
NM_181798.1:c.719A>G