ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326204
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53065
ClinVar RCV Id:
RCV000057700
RCV001379025
RCV002223780
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly186Arg
CA007440
NM_000218.3:c.556G>C