ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305637
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53117
ClinVar RCV Id:
RCV000046143
RCV000057777
RCV001841654
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Val280Glu
CA008454
NM_000218.3:c.839T>A