ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305611
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53101
ClinVar RCV Id:
RCV000046124
RCV000057756
RCV000182113
RCV001814031
RCV001813753
RCV000709733
RCV002408548
RCV001841653
RCV001843471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg132His
CA008184
NM_181798.1:c.395G>A