ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825089612
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000482770
RCV001039538
RCV001248899
RCV002329140
ClinVar Variation:
418272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Glu146Gly
CA16619306
NM_000218.3:c.437A>G