ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830390912
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427960
ClinVar RCV Id:
RCV000498969
RCV000763731
RCV001002570
RCV001841402
RCV001591130
RCV001856926
RCV003362801
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gly502Ser
CA033561
NM_181798.1:c.1504G>A