ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830390068
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1044172
ClinVar RCV Id:
RCV001348383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Val192Met
CA379132995
NM_181798.1:c.574G>A