ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111173
Gene: KCNQ1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.012080833
Score
-0.012080833
Linked Data - NCBI & NCI
ClinVar Allele:
67804
ClinVar RCV:
RCV000057811
RCV000621036
ClinVar Variation:
53136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly314Arg
CA008777
NM_000218.3:c.940G>C