ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305592
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200821
ClinVar RCV Id:
RCV000182107
RCV000678810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ser126Pro
CA008091
NM_181798.1:c.376T>C