ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328375
Gene: KCNQ1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.016310667
Score
-0.016310667
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000057814
ClinVar Variation:
67126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly314Ala
CA008798
NM_000218.3:c.941G>C