ClinGen Allele Registry
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Canonical Allele Identifier:
PA306032
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057742
RCV001385528
RCV001807770
RCV001841652
RCV002381343
RCV003482908
RCV004542713
ClinVar Variation:
53092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg116His
CA008018
NM_181798.1:c.347G>A