ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305604
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53099
ClinVar RCV Id:
RCV000057754
RCV000182111
RCV004018951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.His131Arg
CA008167
NM_181798.1:c.392A>G