ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305619
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53106
ClinVar RCV Id:
RCV000057762
RCV000182115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Thr265Ile
CA008246
NM_000218.3:c.794C>T