ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658662324
Gene: KCNQ1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.030651
Score
0.030651
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000521598
RCV003532152
ClinVar Variation:
449302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Tyr315His
CA379132979
NM_000218.3:c.943T>C