ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306085
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200906
ClinVar RCV Id:
RCV000182321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gln417Leu
CA006022
NM_181798.1:c.1250A>T