ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139668410
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
960512
ClinVar RCV Id:
RCV001234051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly80Ala
CA379116894
NM_000218.3:c.239G>C