ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA326022
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52928
ClinVar RCV Id:
RCV000045928
RCV000057523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ser211Phe
CA004825
NM_181798.1:c.632C>T