ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218622
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67088
ClinVar RCV Id:
RCV000057714
RCV000231075
RCV000618352
RCV001193175
RCV001841688
RCV003335087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg195Gln
CA007641
NM_000218.3:c.584G>A