ClinGen Allele Registry
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Canonical Allele Identifier:
PA116028
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000003291
RCV000003292
RCV000057628
RCV000182219
RCV000762837
RCV001824559
RCV001851606
RCV003591618
RCV004018545
ClinVar Variation:
3142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg456Cys
CA006297
NM_181798.1:c.1366C>T