ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211526
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37255
ClinVar RCV Id:
RCV000030815
RCV000057723
RCV000119056
RCV000148547
RCV000252730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Val205Met
CA007777
NM_000218.3:c.613G>A