ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825089533
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1902541
ClinVar RCV Id:
RCV002580358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Leu79Phe
CA379116873
NM_000218.3:c.235C>T