ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305696
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000182148
RCV001852304
RCV002372112
ClinVar Variation:
200830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Thr322Arg
CA008952
NM_000218.3:c.965C>G