ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305787
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67027
ClinVar RCV Id:
RCV000057579
RCV000182185
RCV000586616
RCV001104824
RCV001104825
RCV001104826
RCV001104827
RCV001226314
RCV001841663
RCV004017362
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Pro321Leu
CA005629
NM_181798.1:c.962C>T