ClinGen Allele Registry
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Canonical Allele Identifier:
PA305542
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057705
RCV000244400
RCV001380572
RCV001705704
RCV002259313
ClinVar Variation:
53070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg190Trp
CA007529
NM_000218.3:c.568C>T