ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573061849
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1308222
ClinVar RCV Id:
RCV001774133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.His510Pro
CA379138920
NM_000218.3:c.1529A>C