ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328277
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057687
RCV000414067
RCV000620765
RCV000764971
RCV000812759
RCV001102704
RCV001106436
RCV001107937
RCV001107938
RCV001731350
RCV001841683
ClinVar Variation:
67078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Val45Met
CA007311
NM_181798.1:c.133G>A