ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326318
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_861463.1:p.Val183Ile
CA008728
NM_181798.1:c.547G>A