ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830390650
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526906
ClinVar RCV Id:
RCV000631552
RCV001841812
RCV003441979
RCV003319386
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg384Gln
CA030773
NM_181798.1:c.1151G>A