ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111112
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3114
ClinVar RCV Id:
RCV000003261
RCV000057702
RCV000223880
RCV001383882
ClinVar Variation Id:
67083
ClinVar RCV Id:
RCV000057703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly189Arg
CA007480
NM_000218.3:c.565G>A
CA007488
NM_000218.3:c.565G>C