ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA306058
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000182313
RCV003532030
ClinVar Variation:
200900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ala344Gly
CA004959
NM_000218.3:c.1031C>G