ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645420581
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000477123
ClinVar Variation:
405267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gln234Leu
CA16613562
NM_000218.3:c.701A>T