ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891846532
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000705141
ClinVar Variation:
581345
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Thr312del
CA891843060
NM_000218.3:c.935_937del