ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA214123
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
36439
ClinVar RCV Id:
RCV000030111
RCV000057792
RCV000618395
RCV000709734
RCV001532623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ala175Val
CA008587
NM_181798.1:c.524C>T