ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915966090
Gene: KCNQ1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.021260333
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000822437
RCV003222147
ClinVar Variation:
664353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ile313Phe
CA379132972
NM_000218.3:c.937A>T