ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305722
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67006
ClinVar RCV Id:
RCV000057533
RCV000223742
RCV000617913
RCV001212181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ala217Glu
CA004955
NM_181798.1:c.650C>A