ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110873
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057785
RCV000148555
RCV000182127
RCV000621242
RCV000678913
RCV001331076
RCV001841692
ClinVar Variation:
67117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg293Cys
CA008527
NM_000218.3:c.877C>T