ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111463
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67026
ClinVar RCV Id:
RCV000057578
RCV000155365
RCV000171758
RCV000252693
RCV001102908
RCV001102907
RCV001093977
RCV001102906
RCV001841662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Pro448Arg
CA005620
NM_000218.3:c.1343C>G