ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305684
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67005
ClinVar RCV Id:
RCV000057527
RCV000182145
RCV002513746
RCV003333023
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ala214Gly
CA004889
NM_181798.1:c.641C>G