ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830390003
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405257
ClinVar RCV Id:
RCV000470657
RCV001558264
RCV003224284
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ala173Glu
CA16613563
NM_181798.1:c.518C>A