ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111720
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53133
ClinVar RCV Id:
RCV000057804
RCV000520168
RCV001852980
RCV003591650
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Val310Ile
CA008728
NM_000218.3:c.928G>A