ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218591
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67030
ClinVar RCV Id:
RCV000057583
RCV000284895
RCV000246256
RCV000337547
RCV000355198
RCV000297971
RCV000398200
RCV000764975
RCV001255594
RCV001841666
RCV003448257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg452Gln
CA005679
NM_000218.3:c.1355G>A