ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326351
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53148
ClinVar RCV Id:
RCV000057828
RCV001387950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Pro193His
CA008917
NM_181798.1:c.578C>A