ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111197
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3123
ClinVar RCV Id:
RCV000003271
RCV000057810
RCV000182137
RCV000852434
RCV002371756
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly314Ser
CA008773
NM_000218.3:c.940G>A