ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252553
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3113
ClinVar RCV Id:
RCV000003260
RCV000057693
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ala51Pro
CA007364
NM_181798.1:c.151G>C