ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA326354
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53150
ClinVar RCV Id:
RCV000057830
RCV000853590
RCV004017356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Thr195Lys
CA008945
NM_181798.1:c.584C>A