ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305622
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53108
ClinVar RCV Id:
RCV000046131
RCV000057763
RCV000182116
RCV000250332
RCV002483053
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Leu139Pro
CA008262
NM_181798.1:c.416T>C