ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830390536
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526963
ClinVar RCV Id:
RCV000631635
RCV002388007
RCV003323647
RCV001841816
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ser336Thr
CA029097
NM_181798.1:c.1007G>C