ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328317
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057740
RCV000631706
ClinVar Variation:
67100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg243Ser
CA008003
NM_000218.3:c.727C>A