ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326111
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52991
ClinVar RCV Id:
RCV000045995
RCV000057592
RCV000735257
RCV004017348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg391Gly
CA005889
NM_181798.1:c.1171C>G