ClinGen Allele Registry
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Canonical Allele Identifier:
PA305894
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000046031
RCV000057637
RCV000182228
RCV000247524
RCV001258107
RCV001731336
RCV002496702
RCV003224128
RCV003591639
ClinVar Variation:
53018
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg467Gln
CA006388
NM_181798.1:c.1400G>A