ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326281
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
67780
ClinVar RCV:
RCV000239632
RCV001346356
RCV001588868
ClinVar Variation:
53112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Phe275del
CA008360
NM_000218.3:c.824_826del