ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218602
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67061
ClinVar RCV Id:
RCV000057646
RCV000484989
RCV000471820
RCV000763730
RCV001841679
RCV003372614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gly494Ser
CA006526
NM_181798.1:c.1480G>A