ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211524
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000057771
RCV000148546
RCV000182121
RCV000219577
RCV001080930
RCV001102797
RCV001108024
RCV001108025
RCV001108026
RCV001841690
RCV002426616
ClinVar Variation:
67109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ile147Val
CA008353
NM_181798.1:c.439A>G