ClinGen Allele Registry
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Canonical Allele Identifier:
PA328304
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
77992
ClinVar RCV:
RCV000057729
RCV000754820
RCV001841689
RCV001843472
RCV004018998
ClinVar Variation:
67096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Thr224Met
CA007860
NM_000218.3:c.671C>T