ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305833
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52998
ClinVar RCV Id:
RCV000046006
RCV000057604
RCV000223851
RCV000762836
RCV002390194
RCV001248800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg412Trp
CA005994
NM_181798.1:c.1234C>T