ClinGen Allele Registry
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Canonical Allele Identifier:
PA252577
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000003271
RCV000057810
RCV000182137
RCV000852434
RCV002371756
ClinVar Variation:
3123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gly187Ser
CA008773
NM_181798.1:c.559G>A