ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328355
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_000209.2:p.Ala283Gly
CA008478
NM_000218.3:c.848C>G