ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA110980
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000003291
RCV000003292
RCV000057628
RCV000182219
RCV000762837
RCV001824559
RCV001851606
RCV003591618
RCV004018545
ClinVar Variation:
3142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg583Cys
CA006297
NM_000218.3:c.1747C>T