ClinGen Allele Registry
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Canonical Allele Identifier:
PA326065
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52956
ClinVar RCV Id:
RCV000057552
RCV000786152
RCV002251734
RCV001384915
RCV002054871
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg239Gln
CA005263
NM_181798.1:c.716G>A