ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328308
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67097
ClinVar RCV Id:
RCV000057731
RCV000521709
RCV000821599
RCV002362691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ala226Val
CA007880
NM_000218.3:c.677C>T