ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328224
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67047
ClinVar RCV Id:
RCV000057615
RCV000249066
RCV000489493
RCV001380059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Lys557Glu
CA006153
NM_000218.3:c.1669A>G