ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305571
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057733
RCV000182100
RCV000240642
RCV001385527
RCV002362679
RCV003591647
ClinVar Variation:
53086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg231Cys
CA007919
NM_000218.3:c.691C>T