ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111533
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53000
ClinVar RCV Id:
RCV000046008
RCV000057608
RCV000182209
RCV000619557
RCV001807769
RCV001841635
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ser546Leu
CA006028
NM_000218.3:c.1637C>T