ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306094
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200908
ClinVar RCV Id:
RCV000182323
RCV003532031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ile588Thr
CA006341
NM_000218.3:c.1763T>C