ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326139
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057635
RCV001841638
RCV002223778
RCV002513651
ClinVar Variation:
53016
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg591Cys
CA006360
NM_000218.3:c.1771C>T