ClinGen Allele Registry
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Canonical Allele Identifier:
PA306021
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
67751
ClinVar RCV:
RCV000046103
RCV000057730
RCV000182302
RCV001256914
RCV001841649
RCV002362677
RCV002504939
RCV003335079
ClinVar Variation:
53083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ser98Leu
CA007870
NM_181798.1:c.293C>T