ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326112
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52991
ClinVar RCV Id:
RCV000045995
RCV000057592
RCV000735257
RCV004017348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg518Gly
CA005889
NM_000218.3:c.1552C>G