ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA214120
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000057651
RCV000216406
RCV000229585
RCV000281357
RCV000316585
RCV000375847
RCV000386352
RCV000622132
RCV001093942
RCV001841536
ClinVar Variation:
36438
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Val648Ile
CA006603
NM_000218.3:c.1942G>A