ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328219
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67046
ClinVar RCV Id:
RCV000057612
RCV000479287
RCV001226497
RCV003591657
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg428Ser
CA006138
NM_181798.1:c.1282C>A