ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218598
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67038
ClinVar RCV Id:
RCV000057596
RCV000543065
RCV001104917
RCV001106072
RCV001104916
RCV000988473
RCV001841670
RCV004537258
RCV004018993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg392His
CA005923
NM_181798.1:c.1175G>A