ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830390907
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
979114
ClinVar RCV Id:
RCV001258176
RCV003127738
RCV003591850
RCV003166588
RCV004004930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gly501Ser
CA033512
NM_181798.1:c.1501G>A