ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645421847
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
264157
ClinVar RCV Id:
RCV000241770
RCV001035204
RCV003591725
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Pro447His
CA028729
NM_000218.3:c.1340C>A