ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389943
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405263
ClinVar RCV Id:
RCV000467059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ala156Pro
CA16613511
NM_181798.1:c.466G>C