ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111293
Gene: KCNQ1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.044832833
Score
0.044832833
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000057809
ClinVar Variation:
53135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ile313Met
CA008767
NM_000218.3:c.939C>G