ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830390236
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427114
ClinVar RCV Id:
RCV000489458
RCV001856912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gln232Pro
CA379133762
NM_181798.1:c.695A>C