ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA305877
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200856
ClinVar RCV Id:
RCV000182222
RCV000234786
RCV002516854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ile588Phe
CA006336
NM_000218.3:c.1762A>T