ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803148
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526906
ClinVar RCV Id:
RCV000631552
RCV001841812
RCV003441979
RCV003319386
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg511Gln
CA030773
NM_000218.3:c.1532G>A