ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111134
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3145
ClinVar RCV Id:
RCV000003295
RCV000046133
RCV000057766
RCV000182119
RCV002415391
RCV004540987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly269Asp
CA008292
NM_000218.3:c.806G>A