ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110840
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3117
ClinVar RCV Id:
RCV000003264
RCV000046088
RCV000057706
RCV000182086
RCV000588393
RCV001841223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg190Gln
CA007542
NM_000218.3:c.569G>A