ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305648
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78017
ClinVar RCV:
RCV000057791
RCV000182129
RCV000689954
RCV002371901
ClinVar Variation:
67121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ala302Glu
CA008583
NM_000218.3:c.905C>A