ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111005
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53090
ClinVar RCV Id:
RCV000046110
RCV000057738
RCV000182103
RCV000656159
RCV002371885
RCV003319312
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Asp242Asn
CA007986
NM_000218.3:c.724G>A