ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305819
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67039
ClinVar RCV Id:
RCV000057598
RCV000182200
RCV002399418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Tyr395Ser
CA005936
NM_181798.1:c.1184A>C