ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218605
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53034
ClinVar RCV Id:
RCV000046047
RCV000057658
RCV000182259
RCV004018947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Val110Ile
CA006800
NM_000218.3:c.328G>A