ClinGen Allele Registry
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Canonical Allele Identifier:
PA305692
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53149
ClinVar RCV Id:
RCV000057829
RCV000182147
RCV001258360
RCV001386679
RCV002381344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Thr195Ala
CA008936
NM_181798.1:c.583A>G