ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306057
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200900
ClinVar RCV Id:
RCV000182313
RCV003532030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ala217Gly
CA004959
NM_181798.1:c.650C>G