ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA199749
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3121
ClinVar RCV Id:
RCV000003269
RCV000057528
RCV000171124
RCV000619686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ala214Val
CA004897
NM_181798.1:c.641C>T