ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328354
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67114
ClinVar RCV Id:
RCV000057780
RCV000520786
RCV003531950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ala156Gly
CA008478
NM_181798.1:c.467C>G