ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306116
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057538
RCV000182330
RCV001377773
RCV003162396
ClinVar Variation:
52942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ser222Trp
CA005079
NM_181798.1:c.665C>G