ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328296
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057716
RCV003227632
ClinVar Variation:
67090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ser199Ala
CA007685
NM_000218.3:c.595T>G