ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA211529
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37255
ClinVar RCV Id:
RCV000030815
RCV000057723
RCV000119056
RCV000148547
RCV000252730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Val78Met
CA007777
NM_181798.1:c.232G>A