ClinGen Allele Registry
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Canonical Allele Identifier:
PA305575
Gene: KCNQ1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.004476667
Score
-0.004476667
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000182102
RCV000853596
RCV001852301
ClinVar Variation:
200820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Leu236Pro
CA007943
NM_000218.3:c.707T>C