ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573308548
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1404542
ClinVar RCV Id:
RCV001901696
RCV002359398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ala67Val
CA379130023
NM_181798.1:c.200C>T