ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830390055
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449302
ClinVar RCV Id:
RCV000521598
RCV003532152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Tyr188His
CA379132979
NM_181798.1:c.562T>C