ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139669493
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001842659
ClinVar Variation:
918864
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ile588Val
CA379139706
NM_000218.3:c.1762A>G