ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA111671
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53140
ClinVar RCV Id:
RCV000057816
RCV000182138
RCV000678812
RCV000619103
RCV000709732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Tyr315Cys
CA008807
NM_000218.3:c.944A>G