ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389902
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
393006
ClinVar RCV Id:
RCV000442048
RCV001205787
RCV002418339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Leu139Arg
CA16606299
NM_181798.1:c.416T>G