ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830390004
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
919940
ClinVar RCV Id:
RCV001842731
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ala173Ser
CA379131697
NM_181798.1:c.517G>T