ClinGen Allele Registry
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Canonical Allele Identifier:
PA645420967
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000486506
RCV001248259
RCV002446944
ClinVar Variation:
423306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Glu284del
CA16619310
NM_000218.3:c.850_852del