ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA305575
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200820
ClinVar RCV Id:
RCV000182102
RCV000853596
RCV001852301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Leu236Pro
CA007943
NM_000218.3:c.707T>C