ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326126
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53010
ClinVar RCV Id:
RCV000057623
RCV000239705
RCV002408546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gly441Ala
CA006239
NM_181798.1:c.1322G>C