ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305934
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53028
ClinVar RCV Id:
RCV000057653
RCV000495985
RCV000454712
RCV001305107
RCV002483050
RCV004018946
RCV002223779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Pro7Ser
CA006651
NM_000218.3:c.19C>T