ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326259
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53103
ClinVar RCV Id:
RCV000057758
RCV001368546
RCV004018952
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Glu134Lys
CA008215
NM_181798.1:c.400G>A