ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211532
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67075
ClinVar RCV Id:
RCV000057679
RCV000148549
RCV000433518
RCV000618215
RCV000852644
RCV001841681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Thr153Met
CA007144
NM_000218.3:c.458C>T